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https://disorders.eyes.arizona.edu/references/mutations-tissue-inhibitor-metalloproteinases-3-timp3-patients-sorsbys-fundus-dystrophy2016-04-28T17:43Znever https://disorders.eyes.arizona.edu/handouts/fundus-albipunctatus2016-04-28T17:47Znever https://disorders.eyes.arizona.edu/references/cone-and-rod-dysfunction-fundus-albipunctatus-rdh5-mutation-electrophysiological-study-02016-04-28T17:47Znever https://disorders.eyes.arizona.edu/disorders/fundus-albipunctatus2017-08-08T02:52Znever https://disorders.eyes.arizona.edu/handouts/canavan-disease2016-04-28T17:47Znever https://disorders.eyes.arizona.edu/references/expression-aspartoacylase-aspa-and-canavan-disease2016-04-28T17:47Znever https://disorders.eyes.arizona.edu/references/canavan-disease-carrier-frequency-determination-ashkenazi-jewish-population-and2016-04-28T17:47Znever https://disorders.eyes.arizona.edu/references/canavan-disease-mutations-among-jewish-and-non-jewish-patients2016-04-28T17:47Znever 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https://disorders.eyes.arizona.edu/references/mutation-nuclear-receptor-gene-nr2e3-causes-enhanced-s-cone-syndrome-disorder-retinal2016-04-28T17:43Znever https://disorders.eyes.arizona.edu/references/exclusion-chromosome-regions-6p12-and-15q11-not-chromosome-region-7p11-german-family-auto2013-09-13T02:38Znever https://disorders.eyes.arizona.edu/disorders/nystagmus-3-congenital-ad2017-01-17T23:37Znever https://disorders.eyes.arizona.edu/handouts/nystagmus-3-congenital-ad2013-09-13T03:07Znever https://disorders.eyes.arizona.edu/handouts/albinism-oculocutaneous-type-vii2015-06-14T22:13Znever https://disorders.eyes.arizona.edu/references/mutations-c10orf11-melanocyte-differentiation-gene-cause-autosomal-recessive-albinism2014-10-09T17:59Znever https://disorders.eyes.arizona.edu/disorders/albinism-oculocutaneous-type-vii2016-04-28T18:08Znever 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https://disorders.eyes.arizona.edu/references/autosomal-dominant-nystagmus-foveal-hypoplasia-and-presenile-cataract-associated-novel-pa2013-09-16T01:52Znever https://disorders.eyes.arizona.edu/handouts/nystagmus-4-ad2013-09-18T00:18Znever https://disorders.eyes.arizona.edu/references/eye-movements-familial-vestibulocerebellar-disorder2013-09-18T00:11Znever https://disorders.eyes.arizona.edu/references/familial-vestibulocerebellar-disorder-maps-chromosome-13q31-q33-new-nystagmus-locus2013-09-18T00:12Znever https://disorders.eyes.arizona.edu/disorders/nystagmus-4-ad2017-01-17T23:16Znever https://disorders.eyes.arizona.edu/handouts/nystagmus-5-congenital-x-linked2013-09-18T02:10Znever https://disorders.eyes.arizona.edu/references/gene-x-linked-idiopathic-congenital-nystagmus-nys1-maps-chromosome-xp114-p1132013-09-18T02:03Znever https://disorders.eyes.arizona.edu/disorders/nystagmus-5-congenital-x-linked2017-01-18T00:04Znever https://disorders.eyes.arizona.edu/references/phenotypic-features-patients-nr2e3-mutations2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/novel-gpr143-duplication-mutation-chinese-family-x-linked-congenital-nystagmus2013-09-18T03:11Znever https://disorders.eyes.arizona.edu/references/identification-novel-gpr143-mutation-large-chinese-family-congenital-nystagmus-most-promi2013-09-18T03:13Znever https://disorders.eyes.arizona.edu/references/identification-novel-gpr143-deletion-chinese-family-x-linked-congenital-nystagmus2013-09-18T03:16Znever https://disorders.eyes.arizona.edu/disorders/nystagmus-6-congenital-x-linked2017-07-31T17:32Znever https://disorders.eyes.arizona.edu/handouts/nystagmus-6-congenital-x-linked2016-05-01T18:58Znever https://disorders.eyes.arizona.edu/handouts/nystagmus-7-congenital-ad2013-09-19T03:55Znever 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https://disorders.eyes.arizona.edu/handouts/external-ophthalmoplegia-facial-weakness-and-malignant-hyperthermia2013-10-14T03:55Znever https://disorders.eyes.arizona.edu/references/ryr1-mutations-cause-ophthalmoplegia-facial-weakness-and-malignant-hyperthermia2013-10-14T03:44Znever https://disorders.eyes.arizona.edu/references/recessive-ryr1-mutations-cause-unusual-congenital-myopathy-prominent-nuclear-internalizat2017-07-29T18:20Znever https://disorders.eyes.arizona.edu/references/minicore-myopathy-ophthalmoplegia-caused-mutations-ryanodine-receptor-type-1-gene2017-06-28T21:15Znever https://disorders.eyes.arizona.edu/disorders/external-ophthalmoplegia-facial-weakness-and-malignant-hyperthermia2017-07-29T18:15Znever https://disorders.eyes.arizona.edu/references/dominant-mutation-rpe65-identified-whole-exome-sequencing-causes-retinitis-pigmentosa-cho2013-10-23T22:24Znever https://disorders.eyes.arizona.edu/handouts/orofaciodigital-syndrome-type-vi2013-11-16T00:12Znever https://disorders.eyes.arizona.edu/disorders/goldmann-favre-syndromeescs2018-02-07T22:04Znever https://disorders.eyes.arizona.edu/references/c5orf42-major-gene-responsible-ofd-syndrome-type-vi2013-11-16T00:02Znever https://disorders.eyes.arizona.edu/references/mutations-tmem216-perturb-ciliogenesis-and-cause-joubert-meckel-and-related-syndromes2013-11-16T00:03Znever https://disorders.eyes.arizona.edu/disorders/orofaciodigital-syndrome-type-vi2016-04-28T18:08Znever https://disorders.eyes.arizona.edu/references/new-recessively-inherited-disorder-composed-foveal-hypoplasia-optic-nerve-decussation-def2013-11-17T21:43Znever https://disorders.eyes.arizona.edu/references/foxc2-mutations-familial-and-sporadic-spinal-extradural-arachnoid-cyst2013-12-02T03:32Znever https://disorders.eyes.arizona.edu/references/primary-hyperoxaluria2013-12-02T03:49Znever 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https://disorders.eyes.arizona.edu/references/congenital-neutropenia-retinopathy-new-phenotype-without-intellectual-deficiency-or-obesi2013-12-17T23:34Znever https://disorders.eyes.arizona.edu/references/pnpla6-mutations-cause-boucher-neuhauser-and-gordon-holmes-syndromes-part-broad-neurodege2016-05-03T16:03Znever https://disorders.eyes.arizona.edu/references/hereditary-hyperferritinemia-cataract-syndrome-2-italian-families2013-12-29T19:39Znever https://disorders.eyes.arizona.edu/references/two-novel-rad21-mutations-patients-mild-cornelia-de-lange-syndrome-presentation-and-repor2014-01-05T20:08Znever https://disorders.eyes.arizona.edu/references/postnatal-manipulation-pax6-dosage-reverses-congenital-tissue-malformation-defects2014-01-09T22:53Znever https://disorders.eyes.arizona.edu/references/individual-blepharophimosis-ptosis-epicanthus-inversus-syndrome-bpes-and-additional-featu2014-01-27T22:17Znever https://disorders.eyes.arizona.edu/references/retinal-gene-therapy-patients-choroideremia-initial-findings-phase-12-clinical-trial2014-01-27T23:04Znever https://disorders.eyes.arizona.edu/references/mutation-sall2-causes-recessive-ocular-coloboma-humans-and-mice2014-02-01T01:42Znever https://disorders.eyes.arizona.edu/references/use-glaucoma2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/autosomal-recessive-syndrome-cerebellar-ataxia-and-hypogonadotropic-hypogonadism2014-02-04T20:16Znever https://disorders.eyes.arizona.edu/handouts/chorioretinopathy-ataxia-and-hypogonadism2017-05-31T22:49Znever https://disorders.eyes.arizona.edu/references/ocular-bulbar-limb-and-cardiopulmonary-involvement-oculopharyngeal-muscular-dystrophy2014-03-16T20:28Znever https://disorders.eyes.arizona.edu/references/revised-ghent-nosology-reclassifying-isolated-ectopia-lentis2017-06-26T22:10Znever https://disorders.eyes.arizona.edu/references/continuous-cardiac-troponin-i-release-fabry-disease2016-04-23T23:20Znever https://disorders.eyes.arizona.edu/references/familial-occurrence-ablepharon-macrostomia-syndrome-eyelid-structure-and-surgical-conside2014-03-26T22:01Znever https://disorders.eyes.arizona.edu/references/genetic-analysis-chromosome-11p13-and-pax6-gene-series-125-cases-referred-aniridia2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/pnpla6-mutations-cause-boucher-neuhauser-and-gordon-holmes-syndromes-part-broad-neurode-02014-03-27T18:25Znever https://disorders.eyes.arizona.edu/references/oculocutaneous-albinism2016-04-25T16:08Znever https://disorders.eyes.arizona.edu/references/update-genetics-bardet-biedl-syndrome2014-04-13T19:35Znever https://disorders.eyes.arizona.edu/references/blepharo-cheilo-dontic-bcd-syndrome2014-04-16T02:01Znever https://disorders.eyes.arizona.edu/disorders/blepharocheilodontic-syndrome-12017-11-03T23:33Znever https://disorders.eyes.arizona.edu/handouts/blepharocheilodontic-syndrome-12017-10-04T20:59Znever https://disorders.eyes.arizona.edu/references/blepharo-cheilo-dontic-bcd-syndrome-expanding-phenotype-case-report-and-review-literature2014-04-16T03:24Znever https://disorders.eyes.arizona.edu/references/blepharo-cheilo-dontic-bcd-syndrome-expanding-phenotype-case-report-and-review-literatu-02014-04-16T03:47Znever https://disorders.eyes.arizona.edu/references/mutations-spg7-gene-cause-chronic-progressive-external-ophthalmoplegia-through-disordered2014-04-20T18:14Znever https://disorders.eyes.arizona.edu/references/familial-aniridia-preserved2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/visual-impairment-pseudoxanthoma-elasticum-survey-40-patients2014-04-27T20:47Znever https://disorders.eyes.arizona.edu/handouts/pseudoxanthoma-elasticum-disease2014-04-28T00:21Znever https://disorders.eyes.arizona.edu/references/mutations-ggcx-and-abcc6-genes-family-pseudoxanthoma-elasticum-phenotypes2014-04-28T00:02Znever https://disorders.eyes.arizona.edu/references/retinitis-pigmentosa-cutis-laxa-and-pseudoxanthoma-elasticum-skin-manifestations-associat2014-04-28T00:03Znever https://disorders.eyes.arizona.edu/references/pseudoxanthoma-elasticum-phenotype-cutis-laxa-and-multiple-coagulation-factor-deficiency-2014-04-28T00:05Znever https://disorders.eyes.arizona.edu/disorders/pseudoxanthoma-elasticum-disease2016-04-28T18:08Znever https://disorders.eyes.arizona.edu/references/retinal-detachment-and-prophylaxis-type-1-stickler-syndrome2014-05-11T18:52Znever https://disorders.eyes.arizona.edu/references/exome-sequencing-identifies-compound-heterozygous-mutations-c12orf57-two-siblings-severe-2014-05-11T19:03Znever https://disorders.eyes.arizona.edu/references/kayser-fleischer-ring-and-sunflower-cataract-wilson-disease2014-05-17T01:47Znever https://disorders.eyes.arizona.edu/handouts/alkaptonuria2016-05-03T19:09Znever https://disorders.eyes.arizona.edu/references/use-glaucoma-drainage-devices-management-glaucoma-associated-aniridia2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/ocular-findings-ochronosis-systematic-review-literature2014-05-17T18:13Znever https://disorders.eyes.arizona.edu/references/natural-history-alkaptonuria2014-05-17T18:07Znever https://disorders.eyes.arizona.edu/references/molecular-basis-alkaptonuria2014-05-17T18:09Znever https://disorders.eyes.arizona.edu/disorders/alkaptonuria2017-04-12T22:46Znever https://disorders.eyes.arizona.edu/handouts/spastic-ataxia-22017-07-21T23:30Znever https://disorders.eyes.arizona.edu/references/kif1c-mutations-two-families-hereditary-spastic-paraparesis-and-cerebellar-dysfunction2014-05-18T01:19Znever https://disorders.eyes.arizona.edu/references/motor-protein-mutations-cause-new-form-hereditary-spastic-paraplegia2014-05-18T01:17Znever https://disorders.eyes.arizona.edu/references/exome-sequencing-links-corticospinal-motor-neuron-disease-common-neurodegenerative-disord2014-05-18T01:18Znever https://disorders.eyes.arizona.edu/disorders/spastic-ataxia-22016-04-28T18:08Znever https://disorders.eyes.arizona.edu/references/fabry-disease-multidisciplinary-evaluation-after-10-years-treatment-agalsidase-beta2014-05-25T23:29Znever https://disorders.eyes.arizona.edu/disorders/aniridia-12018-03-13T19:50Znever https://disorders.eyes.arizona.edu/handouts/myopia-and-deafness2014-05-26T17:38Znever https://disorders.eyes.arizona.edu/references/slitrk6-mutations-cause-myopia-and-deafness-humans-and-mice2014-05-26T17:27Znever https://disorders.eyes.arizona.edu/disorders/myopia-and-deafness2016-04-28T18:08Znever https://disorders.eyes.arizona.edu/references/whole-exome-sequencing-identifies-crb1-defect-unusual-maculopathy-phenotype2014-05-26T18:18Znever https://disorders.eyes.arizona.edu/handouts/nanophthalmos-ad2014-05-31T19:47Znever https://disorders.eyes.arizona.edu/references/mutation-tmem98-large-white-kindred-autosomal-dominant-nanophthalmos-linked-17p12-q122014-05-31T19:41Znever https://disorders.eyes.arizona.edu/disorders/nanophthalmos-ad2016-04-28T18:08Znever https://disorders.eyes.arizona.edu/handouts/nanophthalmos-12014-05-31T23:37Znever https://disorders.eyes.arizona.edu/disorders/nanophthalmos-12016-04-28T18:08Znever https://disorders.eyes.arizona.edu/references/autosomal-dominant-nanophthalmos-nno1-high-hyperopia-and-angle-closure-glaucoma-maps-chro2014-05-31T23:30Znever https://disorders.eyes.arizona.edu/references/use-glaucoma-drainage-devices-management-glaucoma-associated-aniridia-02016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/abnormal-collagen-fibrils-nanophthalmos-clinical-and-histologic-study2014-05-31T23:32Znever https://disorders.eyes.arizona.edu/handouts/nanophthalmos-32014-06-04T01:53Znever https://disorders.eyes.arizona.edu/references/localization-novel-gene-congenital-nonsyndromic-simple-microphthalmia-chromosome-2q11-142014-06-04T01:46Znever https://disorders.eyes.arizona.edu/disorders/nanophthalmos-32016-04-28T18:08Znever https://disorders.eyes.arizona.edu/references/anterior-segment-dysgenesis-associated-williams-beuren-syndrome-case-report-and-review-li2014-06-09T23:33Znever https://disorders.eyes.arizona.edu/handouts/microphthalmia-syndromic-52014-06-18T21:46Znever https://disorders.eyes.arizona.edu/references/heterozygous-mutations-otx2-cause-severe-ocular-malformations2014-06-15T02:32Znever https://disorders.eyes.arizona.edu/references/rare-de-novo-nonsense-mutation-otx2-causes-early-onset-retinal-dystrophy-and-pituitary-dy2014-06-15T02:33Znever https://disorders.eyes.arizona.edu/disorders/microphthalmia-syndromic-52016-04-28T18:08Znever https://disorders.eyes.arizona.edu/references/x-linked-clinical-anophthalmos-localization-gene-xq27-xq28-02014-06-17T22:37Znever https://disorders.eyes.arizona.edu/references/ataxia-telangiectasia-interdisciplinary-approach-pathogenesis2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/microphthalmia-syndromic-42016-05-02T16:11Znever https://disorders.eyes.arizona.edu/handouts/microphthalmia-syndromic-42014-06-17T22:46Znever https://disorders.eyes.arizona.edu/references/identification-novel-c-terminal-extension-mutation-epha2-family-affected-congenital-catar2014-06-22T20:28Znever https://disorders.eyes.arizona.edu/references/concentric-macular-rings-sign-patients-foveal-hypoplasia2014-06-22T20:19Znever https://disorders.eyes.arizona.edu/references/retinal-dysfunction-patients-congenital-fibrosis-extraocular-muscles-type-22017-06-28T23:51Znever https://disorders.eyes.arizona.edu/references/cystoid-macular-edema-biettis-crystalline-retinopathy2014-06-22T20:44Znever https://disorders.eyes.arizona.edu/references/novel-mutations-pxdn-cause-microphthalmia-and-anterior-segment-dysgenesis2014-06-22T20:54Znever https://disorders.eyes.arizona.edu/references/preretinal-and-posterior-vitreous-deposits-gaucher-disease2014-06-30T02:54Znever https://disorders.eyes.arizona.edu/references/infantile-esotropia-cross-fixation-inability-abduct-and-underlying-horizontal-gaze-palsy-2014-07-02T02:43Znever https://disorders.eyes.arizona.edu/references/incidence-peters-anomaly-and-congenital-corneal-opacities-interfering-vision-united-state2014-07-06T02:43Znever https://disorders.eyes.arizona.edu/references/breast-and-other-cancers-families-ataxia-telangiectasia2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/new-syndrome-retinitis-pigmentosa-caused-nonsense-mutations-retinol-dehydrogenase-rdh112014-07-10T18:47Znever https://disorders.eyes.arizona.edu/handouts/retinitis-pigmentosa-rdh11-syndrome2014-07-10T21:30Znever https://disorders.eyes.arizona.edu/disorders/retinitis-pigmentosa-rdh11-syndrome2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/ivic-syndrome-caused-c2607dela-mutation-sall4-locus2014-07-13T02:20Znever https://disorders.eyes.arizona.edu/references/duane-radial-ray-syndrome-okihiro-syndrome-maps-20q13-and-results-mutations-sall4-new-mem2014-07-13T02:27Znever https://disorders.eyes.arizona.edu/references/iris-coloboma-ptosis-hypertelorism-and-mental-retardation-new-syndrome-02014-07-13T02:52Znever https://disorders.eyes.arizona.edu/handouts/baraitser-winter-syndrome-12014-07-14T16:54Znever https://disorders.eyes.arizona.edu/disorders/baraitser-winter-syndrome-12017-10-16T18:36Znever https://disorders.eyes.arizona.edu/references/de-novo-mutations-actin-genes-actb-and-actg1-cause-baraitser-winter-syndrome2014-07-14T16:56Znever https://disorders.eyes.arizona.edu/references/iris-coloboma-ptosis-hypertelorism-and-mental-retardation-new-syndrome-12014-07-14T17:35Znever https://disorders.eyes.arizona.edu/disorders/ataxia-telangiectasia2017-04-17T01:34Znever https://disorders.eyes.arizona.edu/references/de-novo-mutations-actin-genes-actb-and-actg1-cause-baraitser-winter-syndrome-02014-07-14T17:39Znever https://disorders.eyes.arizona.edu/handouts/baraitser-winter-syndrome-22014-07-14T17:55Znever https://disorders.eyes.arizona.edu/disorders/baraitser-winter-syndrome-22017-04-17T23:41Znever https://disorders.eyes.arizona.edu/references/granular-corneal-dystrophy-type-2-associated-morphological-abnormalities-meibomian-glands2014-07-20T18:13Znever https://disorders.eyes.arizona.edu/references/expanding-phenotypic-spectrum-porcn-variants-two-males-syndromic-microphthalmia2014-07-20T18:07Znever https://disorders.eyes.arizona.edu/references/silico-analysis-mirna-mediated-gene-regulation-oca-and-oa-genes2014-07-27T18:03Znever https://disorders.eyes.arizona.edu/references/kearns-sayre-syndrome-case-series-35-adults-and-children2014-07-27T18:10Znever https://disorders.eyes.arizona.edu/references/cognitive-phenotype-ataxia-telangiectasia2014-07-27T18:24Znever https://disorders.eyes.arizona.edu/references/baraitser-winter-cerebrofrontofacial-syndrome-delineation-spectrum-42-cases2014-07-27T18:35Znever https://disorders.eyes.arizona.edu/handouts/roberts-syndrome2014-07-31T21:53Znever https://disorders.eyes.arizona.edu/references/basal-cell-carcinoma-eyelid-associated-gorlin-goltz-syndrome2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/roberts-syndromesc-phocomelia-spectrum-case-report-adult-review-literature2014-07-31T21:33Znever https://disorders.eyes.arizona.edu/references/roberts-syndrome-deficit-acetylated-cohesin-leads-nucleolar-dysfunction2014-07-31T21:35Znever https://disorders.eyes.arizona.edu/references/cytogenetic-findings-roberts-sc-phocomelia-syndromes2014-07-31T21:36Znever https://disorders.eyes.arizona.edu/references/sc-phocomelia-and-roberts-syndrome-nosologic-aspects2014-07-31T21:37Znever https://disorders.eyes.arizona.edu/disorders/roberts-syndrome2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/clinical-and-molecular-characterization-enhanced-s-cone-syndrome-children2014-08-03T18:09Znever https://disorders.eyes.arizona.edu/references/marshall-syndrome-further-evidence-distinct-phenotypic-entity-and-report-new-findings2014-08-03T18:28Znever https://disorders.eyes.arizona.edu/handouts/optic-atrophy-intellectual-disability2014-08-04T23:23Znever https://disorders.eyes.arizona.edu/references/nr2f1-mutations-cause-optic-atrophy-intellectual-disability2014-09-14T21:49Znever https://disorders.eyes.arizona.edu/disorders/optic-atrophy-intellectual-disability2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/familial-subconjunctival-epithelial-cysts-associated-nevoid-basal-cell-carcinoma-syndrome2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/frequency-and-clinical-pattern-vitelliform-macular-dystrophy-caused-mutations-interphotor2017-09-15T22:29Znever https://disorders.eyes.arizona.edu/references/association-chrdl1-mutations-and-variants-x-linked-megalocornea-neuh%C3%A4user-syndrome-and-ce2014-08-11T23:02Znever https://disorders.eyes.arizona.edu/references/phenotypic-overlap-between-familial-exudative-vitreoretinopathy-and-microcephaly-lymphede2014-08-19T16:21Znever https://disorders.eyes.arizona.edu/references/congenital-microcephaly-and-chorioretinopathy-due-de-novo-heterozygous-kif11-mutations-fi2014-08-19T16:57Znever https://disorders.eyes.arizona.edu/handouts/temtamy-syndrome2014-08-19T21:47Znever https://disorders.eyes.arizona.edu/references/exome-sequencing-identifies-compound-heterozygous-mutations-c12orf57-two-siblings-sever-02014-08-19T21:26Znever https://disorders.eyes.arizona.edu/references/new-autosomal-recessive-multiple-congenital-abnormalitiesmental-retardation-syndrome-cran2014-08-19T21:28Znever https://disorders.eyes.arizona.edu/references/newly-recognized-autosomal-recessive-syndrome-affecting-neurologic-function-and-vision2014-08-19T21:30Znever https://disorders.eyes.arizona.edu/references/whole-exome-sequencing-identifies-mutated-c12orf57-recessive-corpus-callosum-hypoplasia2014-08-19T21:31Znever https://disorders.eyes.arizona.edu/disorders/temtamy-syndrome2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/clinical-manifestations-105-persons-nevoid-basal-cell-carcinoma-syndrome2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/mutations-ift172-cause-isolated-retinal-degeneration-and-bardet-biedl-syndrome2014-08-31T22:23Znever https://disorders.eyes.arizona.edu/references/curing-color-blindness-mice-and-nonhuman-primates2014-08-31T22:44Znever https://disorders.eyes.arizona.edu/references/whole-exome-sequence-analysis-peters-anomaly2014-09-09T17:22Znever https://disorders.eyes.arizona.edu/references/chronic-kidney-disease-and-uncertain-diagnosis-fabry-disease-approach-correct-diagnosis2014-09-09T17:46Znever https://disorders.eyes.arizona.edu/references/suspicion-index-early-diagnosis-and-treatment-cerebrotendinous-xanthomatosis2014-09-12T23:08Znever https://disorders.eyes.arizona.edu/references/exome-sequencing-identifies-compound-heterozygous-mutations-c12orf57-two-siblings-sever-12014-09-14T21:33Znever https://disorders.eyes.arizona.edu/handouts/cranial-dysinnervation-disorders-strabismus-and-arthrogryposis2014-09-15T23:50Znever https://disorders.eyes.arizona.edu/references/mutations-piezo2-cause-gordon-syndrome-marden-walker-syndrome-and-distal-arthrogryposis-t2014-09-15T23:08Znever https://disorders.eyes.arizona.edu/references/ecel1-related-strabismus-phenotype-consistent-congenital-cranial-dysinnervation-disorder2014-09-15T23:10Znever https://disorders.eyes.arizona.edu/references/distal-arthrogryposis-5-dominant-syndrome-peripheral-contractures-and-ophthalmoplegia2014-09-15T23:13Znever https://disorders.eyes.arizona.edu/references/nevoid-basal-cell-carcinoma-syndrome-gorlin-syndrome2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/distal-arthrogryposis-type-iib-unreported-ophthalmic-findings2014-09-15T23:21Znever https://disorders.eyes.arizona.edu/references/arthrogryposis-ophthalmoplegia-and-retinopathy-confirmation-new-type-arthrogryposis2014-09-15T23:27Znever https://disorders.eyes.arizona.edu/disorders/cranial-dysinnervation-disorders-strabismus-and-arthrogryposis2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/retinal-arteriolar-tortuosity2014-09-27T02:30Znever https://disorders.eyes.arizona.edu/references/next-generation-sequencing-uncovers-missense-mutation-col4a1-cause-familial-retinal-arter2014-09-27T01:49Znever https://disorders.eyes.arizona.edu/references/progressive-inherited-retinal-arteriolar-tortuosity-spontaneous-retinal-hemorrhages2014-09-27T01:51Znever https://disorders.eyes.arizona.edu/references/familial-retinal-arteriolar-tortuosity-retinal-hemorrhage2014-09-27T02:06Znever https://disorders.eyes.arizona.edu/disorders/retinal-arteriolar-tortuosity2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/corneal-dystrophy-band-shaped2014-10-01T04:13Znever https://disorders.eyes.arizona.edu/references/ueber-primaere-guertelfoermige-hornhauttruebung2014-10-01T04:05Znever https://disorders.eyes.arizona.edu/references/multiple-nevoid-basal-cell-epithelioma-jaw-cysts-and-bifid-rib-syndrome2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/ueber-familiaeres-auftreten-der-primaeren-bandfoermigen-hornhautdegeneration2014-10-01T04:06Znever https://disorders.eyes.arizona.edu/references/une-famille-avec-degenerescence-en-bandelette-de-la-cornee2014-10-01T04:07Znever https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-band-shaped2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/optic-atrophy-areflexia-ataxia-hearing-loss2014-10-04T03:37Znever https://disorders.eyes.arizona.edu/references/novel-recurrent-mutation-atp1a3-causes-capos-syndrome2014-10-04T03:24Znever https://disorders.eyes.arizona.edu/references/cerebellar-ataxia-areflexia-pes-cavus-optic-atrophy-and-sensorineural-hearing-loss-capos-2014-10-04T03:25Znever https://disorders.eyes.arizona.edu/disorders/optic-atrophy-areflexia-ataxia-hearing-loss2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/compound-heterozygous-pnpla6-mutations-cause-boucher-neuh%C3%A4user-syndrome-late-onset-ataxia2014-10-05T19:00Znever https://disorders.eyes.arizona.edu/handouts/cerebral-atrophy-autosomal-recessive2014-10-06T03:05Znever https://disorders.eyes.arizona.edu/references/mutation-serine-protease-tmprss4-novel-pediatric-neurodegenerative-disorder2014-10-06T02:59Znever https://disorders.eyes.arizona.edu/disorders/basal-cell-nevus-syndrome2018-01-11T16:01Znever https://disorders.eyes.arizona.edu/disorders/cerebral-atrophy-autosomal-recessive2017-05-19T22:42Znever https://disorders.eyes.arizona.edu/references/new-syndrome-stargardt-macular-degeneration-abnormalities-corpus-callosum-mental-retardat2014-10-06T21:54Znever https://disorders.eyes.arizona.edu/handouts/spinocerebellar-ataxia-382014-10-06T23:33Znever https://disorders.eyes.arizona.edu/references/elovl5-mutations-cause-spinocerebellar-ataxia-382014-10-06T23:27Znever https://disorders.eyes.arizona.edu/disorders/spinocerebellar-ataxia-382016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/microphthalmia-syndromic-102016-08-29T00:54Znever https://disorders.eyes.arizona.edu/references/microphthalmia-and-brain-atrophy-novel-neurodegenerative-disease2014-10-07T16:40Znever https://disorders.eyes.arizona.edu/disorders/microphthalmia-syndromic-10-02016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/neu-laxova-syndrome-12014-10-07T23:15Znever https://disorders.eyes.arizona.edu/references/familial-behr-syndrome-phenotype-autosomal-dominant-inheritance2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/neu-laxova-syndrome-detailed-prenatal-diagnostic-and-post-mortem-findings-and-literature-2014-10-07T23:04Znever https://disorders.eyes.arizona.edu/references/neu-laxova-syndrome-inborn-error-serine-metabolism-caused-mutations-phgdh2014-10-07T23:06Znever 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https://disorders.eyes.arizona.edu/references/clinical-biochemical-and-molecular-characterization-novel-mutations-abca1-families-tangie2014-10-24T23:35Znever https://disorders.eyes.arizona.edu/references/behrs-syndrome-and-3-methylglutaconic-aciduria2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/genes-and-mutations-causing-autosomal-dominant-retinitis-pigmentosa2014-10-24T23:57Znever https://disorders.eyes.arizona.edu/references/boucher-neuh%C3%A4user-syndrome-cerebellar-degeneration-chorioretinal-dystrophy-and-hypogonado2014-11-11T22:52Znever https://disorders.eyes.arizona.edu/references/hepatobiliary-malignancies-wilson-disease2014-11-11T23:07Znever https://disorders.eyes.arizona.edu/references/clinical-aspects-usher-syndrome-and-ush2a-gene-cohort-433-patients2014-11-11T23:16Znever https://disorders.eyes.arizona.edu/references/mutations-trnt1-cause-congenital-sideroblastic-anemia-immunodeficiency-fevers-and-develop2014-11-13T17:54Znever https://disorders.eyes.arizona.edu/references/novel-syndrome-congenital-sideroblastic-anemia-b-cell-immunodeficiency-periodic-fevers-an2014-11-13T17:55Znever https://disorders.eyes.arizona.edu/handouts/pigmentary-retinopathy-congenital-sideroblastic-anemia2014-11-13T18:07Znever https://disorders.eyes.arizona.edu/disorders/pigmentary-retinopathy-congenital-sideroblastic-anemia2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/cataracts-congenital-intellectual-disability2014-11-17T22:34Znever https://disorders.eyes.arizona.edu/references/autosomal-recessive-congenital-cataract-intellectual-disability-phenotype-linked-stx3-con2014-11-17T22:23Znever https://disorders.eyes.arizona.edu/references/type-iii-3-methylglutaconic-aciduria-optic-atrophy-plus-syndrome-or-costeff-optic-atrophy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/cataracts-congenital-intellectual-disability2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/cataracts-growth-hormone-deficiency-and-skeletal-dysplasia2014-11-18T18:10Znever https://disorders.eyes.arizona.edu/references/mutation-nuclear-encoded-mitochondrial-isoleucyl-trna-synthetase-iars2-patients-cataracts2014-11-18T18:04Znever https://disorders.eyes.arizona.edu/references/unique-hereditary-sensory-and-autonomic-neuropathy-growth-hormone-deficiency2014-11-18T18:00Znever https://disorders.eyes.arizona.edu/disorders/cataracts-growth-hormone-deficiency-and-skeletal-dysplasia2017-05-18T18:48Znever https://disorders.eyes.arizona.edu/handouts/retinal-dystrophy-inner-retinal-abnormalities2014-11-19T23:16Znever https://disorders.eyes.arizona.edu/references/familial-dementia-gene-revisited-missense-mutation-revealed-whole-exome-sequencing-identi2014-11-19T23:19Znever https://disorders.eyes.arizona.edu/disorders/retinal-dystrophy-inner-retinal-abnormalities2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/dorzolamide-use-management-macular-cysts-patient-enhanced-s-cone-syndrome2014-11-21T18:24Znever https://disorders.eyes.arizona.edu/handouts/palmoplantar-keratoderma-and-woolly-hair2014-11-21T22:49Znever https://disorders.eyes.arizona.edu/disorders/behr-early-onset-optic-atrophy-syndromes2017-04-18T22:30Znever https://disorders.eyes.arizona.edu/references/mutation-kank2-encoding-sequestering-protein-steroid-receptor-coactivators-causes-keratod2014-11-21T22:42Znever https://disorders.eyes.arizona.edu/disorders/palmoplantar-keratoderma-and-woolly-hair2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/new-syndrome-retinitis-pigmentosa-caused-nonsense-mutations-retinol-dehydrogenase-rdh11-02014-12-03T23:48Znever https://disorders.eyes.arizona.edu/handouts/retinal-dystrophy-cataracts-and-short-stature2014-12-03T23:59Znever https://disorders.eyes.arizona.edu/disorders/retinal-dystrophy-cataracts-and-short-stature2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/familial-exudative-vitreoretinopathy-evr52014-12-09T22:40Znever https://disorders.eyes.arizona.edu/references/novel-mutation-tspan12-leads-autosomal-recessive-inheritance-congenital-vitreoretinal-dis2014-12-04T18:53Znever https://disorders.eyes.arizona.edu/references/recessive-mutations-tspan12-cause-retinal-dysplasia-and-severe-familial-exudative-vitreor2014-12-04T18:55Znever https://disorders.eyes.arizona.edu/disorders/familial-exudative-vitreoretinopathy-evr52016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/fanilial-exudative-vitreoretinopathy-evr32014-12-10T20:27Znever https://disorders.eyes.arizona.edu/references/coloboma-mental-retardation-hypogonadism-and-obesity-critical-review-so-called-biemond2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/genetic-heterogeneity-familial-exudative-vitreoretinopathy-exclusion-evr1-locus-chromosom2014-12-10T20:10Znever https://disorders.eyes.arizona.edu/references/new-locus-autosomal-dominant-familial-exudative-vitreoretinopathy-maps-chromosome-11p12-12014-12-10T20:12Znever https://disorders.eyes.arizona.edu/disorders/familial-exudative-vitreoretinopathy-evr32017-08-07T17:44Znever https://disorders.eyes.arizona.edu/references/clinical-management-type-2-gaucher-disease2014-12-11T17:33Znever https://disorders.eyes.arizona.edu/references/comprehensive-analysis-patients-stargardt-macular-dystrophy-reveals-new-genotype-phenotyp2014-12-11T17:45Znever https://disorders.eyes.arizona.edu/references/early-onset-stargardt-disease-phenotypic-and-genotypic-characteristics2014-12-11T17:59Znever https://disorders.eyes.arizona.edu/references/targeted-exon-sequencing-usher-syndrome-type-i2014-12-11T18:05Znever https://disorders.eyes.arizona.edu/references/recessive-mutations-leprel1-underlie-recognizable-lens-subluxation-phenotype2014-12-11T18:16Znever https://disorders.eyes.arizona.edu/handouts/macular-degeneration-early-onset2014-12-30T19:54Znever https://disorders.eyes.arizona.edu/disorders/macular-degeneration-early-onset2017-09-15T20:17Znever https://disorders.eyes.arizona.edu/disorders/biemond-syndrome-ii2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/rare-and-common-variants-extracellular-matrix-gene-fibrillin-2-fbn2-are-associated-macula2014-12-30T19:58Znever https://disorders.eyes.arizona.edu/handouts/macular-dystrophy-vitelliform-12015-01-03T19:14Znever https://disorders.eyes.arizona.edu/references/atypical-vitelliform-macular-dystrophy-5-generation-family2015-01-03T02:46Znever https://disorders.eyes.arizona.edu/references/frequency-and-clinical-pattern-vitelliform-macular-dystrophy-caused-mutations-interphot-02015-01-03T02:47Znever https://disorders.eyes.arizona.edu/disorders/macular-dystrophy-vitelliform-12017-09-15T22:31Znever https://disorders.eyes.arizona.edu/handouts/macular-dystrophy-vitelliform-32015-01-03T19:28Znever https://disorders.eyes.arizona.edu/references/peripherinretinal-degeneration-slow-mutation-pro-210-arg-associated-macular-and-periphera2015-01-03T19:20Znever https://disorders.eyes.arizona.edu/references/adult-vitelliform-macular-dystrophy2015-01-03T19:21Znever https://disorders.eyes.arizona.edu/disorders/macular-dystrophy-vitelliform-32017-09-15T22:46Znever https://disorders.eyes.arizona.edu/handouts/macular-dystrophy-vitelliform-42015-01-08T22:15Znever https://disorders.eyes.arizona.edu/references/congenital-ectropion-and-distichiasis-etiologic-and-hereditary-factors-report-cases-and2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/mutations-impg1-cause-vitelliform-macular-dystrophies2015-01-08T22:05Znever https://disorders.eyes.arizona.edu/references/frequency-and-clinical-pattern-vitelliform-macular-dystrophy-caused-mutations-interphot-12015-01-08T22:07Znever https://disorders.eyes.arizona.edu/disorders/macular-dystrophy-vitelliform-42016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/macular-dystrophy-vitelliform-52015-01-10T03:42Znever https://disorders.eyes.arizona.edu/references/mutations-impg2-encoding-interphotoreceptor-matrix-proteoglycan-2-cause-autosomal-recessi2015-01-10T03:36Znever https://disorders.eyes.arizona.edu/disorders/macular-dystrophy-vitelliform-52017-09-15T23:02Znever https://disorders.eyes.arizona.edu/references/ophthalmic-and-molecular-genetic-findings-kniest-dysplasia2015-01-20T22:07Znever https://disorders.eyes.arizona.edu/handouts/lacrimal-puncta-agenesis2015-07-06T21:55Znever https://disorders.eyes.arizona.edu/references/congenital-dacryocystocele-there-familial-predisposition2017-09-12T16:47Znever https://disorders.eyes.arizona.edu/references/identification-igsf3-mutation-family-congenital-nasolacrimal-duct-obstruction2015-01-22T17:45Znever https://disorders.eyes.arizona.edu/references/distichiasis2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/case-congenital-atresia-lacrimal-ducts-familial-characteristics2015-01-22T17:53Znever https://disorders.eyes.arizona.edu/disorders/lacrimal-puncta-agenesis2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/galloway-mowat-syndrome2017-08-07T23:14Znever https://disorders.eyes.arizona.edu/references/loss-function-mutations-wdr73-are-responsible-microcephaly-and-steroid-resistant-nephroti2015-01-23T21:52Znever https://disorders.eyes.arizona.edu/references/galloway-mowat-syndrome-abnormal-gyral-patterns-and-glomerulopathy2015-01-23T21:55Znever https://disorders.eyes.arizona.edu/disorders/galloway-mowat-syndrome2017-10-11T19:06Znever https://disorders.eyes.arizona.edu/handouts/retinal-dystrophy-and-obesity2015-01-23T23:46Znever https://disorders.eyes.arizona.edu/references/homozygous-mutation-tub-gene-associated-retinal-dystrophy-and-obesity2015-01-23T23:41Znever https://disorders.eyes.arizona.edu/disorders/retinal-dystrophy-and-obesity2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/intra-familial-phenotype-variability-patients-jalili-syndrome2017-08-30T23:00Znever https://disorders.eyes.arizona.edu/references/districhiasis-congenita-vera2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/abrogation-hmx1-function-causes-rare-oculo-auricular-syndrome-associated-congenital-catar2015-01-27T19:07Znever https://disorders.eyes.arizona.edu/handouts/osteogenesis-imperfecta-type-vii2015-01-28T01:27Znever https://disorders.eyes.arizona.edu/references/crtap-mutation-patient-cole-carpenter-syndrome2015-01-28T01:12Znever https://disorders.eyes.arizona.edu/references/deficiency-cartilage-associated-protein-recessive-lethal-osteogenesis-imperfecta2015-01-28T01:13Znever https://disorders.eyes.arizona.edu/references/new-case-cole-carpenter-syndrome2015-01-28T01:15Znever https://disorders.eyes.arizona.edu/disorders/osteogenesis-imperfecta-type-vii2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/oculootofacial-dysplasia2015-01-29T22:47Znever https://disorders.eyes.arizona.edu/references/compound-heterozygosity-low-frequency-promoter-deletions-and-rare-loss-function-mutations2015-01-29T22:39Znever https://disorders.eyes.arizona.edu/references/novel-oculo-oto-facial-dysplasia-native-alaskan-community-autosomal-recessive-inheritance2015-01-29T22:41Znever https://disorders.eyes.arizona.edu/disorders/oculootofacial-dysplasia2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/disorders/blatt-distichiasis2017-04-19T22:16Znever https://disorders.eyes.arizona.edu/handouts/spinocerebellar-ataxia-182015-04-02T02:10Znever https://disorders.eyes.arizona.edu/references/deletions-grid2-lead-recessive-syndrome-cerebellar-ataxia-and-tonic-upgaze-humans2015-01-30T21:22Znever https://disorders.eyes.arizona.edu/references/homozygous-deletion-grid2-causes-human-phenotype-cerebellar-ataxia-and-atrophy2015-01-30T21:23Znever https://disorders.eyes.arizona.edu/disorders/spinocerebellar-ataxia-182016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/mutations-plk4-encoding-master-regulator-centriole-biogenesis-cause-microcephaly-growth-f2015-02-01T21:43Znever https://disorders.eyes.arizona.edu/handouts/chorioretinopathy-microcephaly-22015-02-01T21:55Znever https://disorders.eyes.arizona.edu/disorders/chorioretinopathy-microcephaly-22017-06-01T19:35Znever https://disorders.eyes.arizona.edu/handouts/epileptic-encephalopathy-early-infantile-282017-02-07T16:55Znever https://disorders.eyes.arizona.edu/references/supposed-tumor-suppressor-gene-wwox-mutated-early-lethal-microcephaly-syndrome-epilepsy-g2015-02-05T18:11Znever https://disorders.eyes.arizona.edu/references/wwox-related-encephalopathies-delineation-phenotypical-spectrum-and-emerging-genotype-phe2015-02-05T18:13Znever https://disorders.eyes.arizona.edu/references/mutation-nuclear-receptor-gene-nr2e3-causes-enhanced-s-cone-syndrome-disorder-retinal-02016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/epileptic-encephalopathy-early-infantile-282017-07-28T22:22Znever https://disorders.eyes.arizona.edu/references/abrogation-hmx1-function-causes-rare-oculoauricular-syndrome-associated-congenital-catara2015-02-08T19:45Znever https://disorders.eyes.arizona.edu/references/biochemical-abnormalities-pearson-syndrome2015-02-26T01:51Znever https://disorders.eyes.arizona.edu/references/targeted-next-generation-sequencing-identifies-novel-mutations-rp1-relatively-common-caus2015-02-28T02:18Znever https://disorders.eyes.arizona.edu/references/mutations-twinkle-primase-helicase-cause-perrault-syndrome-neurologic-features2015-03-01T20:03Znever https://disorders.eyes.arizona.edu/handouts/perrault-syndrome2015-03-03T00:10Znever https://disorders.eyes.arizona.edu/references/perrault-syndrome-further-evidence-genetic-heterogeneity2015-03-02T23:52Znever https://disorders.eyes.arizona.edu/references/deafness-sensory-neuropathy-and-ovarian-dysgenesis-new-syndrome-or-broader-spectrum-perra2015-03-02T23:54Znever https://disorders.eyes.arizona.edu/references/perrault-syndrome-report-four-new-cases-review-and-exclusion-candidate-genes2015-03-02T23:55Znever https://disorders.eyes.arizona.edu/references/nr2e3-mutations-enhanced-s-cone-sensitivity-syndrome-escs-goldmann-favre-syndrome-gfs-02016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/perrault-syndrome-report-four-new-cases-review-and-exclusion-candidate-genes-02015-03-02T23:56Znever https://disorders.eyes.arizona.edu/references/perrault-syndrome-sisters2015-03-02T23:57Znever https://disorders.eyes.arizona.edu/references/perrault-syndrome-sisters-02015-03-03T00:02Znever https://disorders.eyes.arizona.edu/disorders/perrault-syndrome2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/retinal-dystrophy-newfoundland-type2015-03-05T02:54Znever https://disorders.eyes.arizona.edu/references/newfoundland-rod-cone-dystrophy-early-onset-retinal-dystrophy-caused-splice-junction-muta2015-03-05T02:45Znever https://disorders.eyes.arizona.edu/references/phenotype-variations-retinal-dystrophies-caused-mutations-rlbp1-gene2015-03-05T02:47Znever https://disorders.eyes.arizona.edu/disorders/retinal-dystrophy-newfoundland-type2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/fibrosis-extraocular-muscles-cfeom52015-03-08T21:52Znever https://disorders.eyes.arizona.edu/references/recessive-mutations-col25a1-are-cause-congenital-cranial-dysinnervation-disorder2015-03-08T21:46Znever https://disorders.eyes.arizona.edu/references/phenotypic-features-patients-nr2e3-mutations-02016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/fibrosis-extraocular-muscles-cfeom52017-06-30T21:32Znever https://disorders.eyes.arizona.edu/references/novel-3-base-pair-deletion-cryaa-gene-identified-large-chinese-pedigree-featuring-autosom2015-03-09T14:41Znever https://disorders.eyes.arizona.edu/handouts/filippi-syndrome2015-03-09T23:02Znever https://disorders.eyes.arizona.edu/references/filippi-syndrome-specific-mcamr-complex-within-spectrum-so-called-craniodigital-syndromes2015-03-09T22:48Znever https://disorders.eyes.arizona.edu/references/mutations-ckap2l-human-homolog-mouse-radmis-gene-cause-filippi-syndrome2015-03-09T22:50Znever https://disorders.eyes.arizona.edu/references/unusual-facial-appearance-microcephaly-growth-and-mental-retardation-and-syndactyly-new-s2015-03-09T22:51Znever https://disorders.eyes.arizona.edu/disorders/filippi-syndrome2017-06-30T22:12Znever https://disorders.eyes.arizona.edu/handouts/macular-dystrophy-central-cone-involvement2015-03-10T02:23Znever https://disorders.eyes.arizona.edu/references/mutations-mfsd8-encoding-lysosomal-membrane-protein-are-associated-nonsyndromic-autosomal2015-03-10T02:17Znever https://disorders.eyes.arizona.edu/disorders/macular-dystrophy-central-cone-involvement2017-09-15T20:24Znever https://disorders.eyes.arizona.edu/references/phenotypic-variation-enhanced-s-cone-syndrome-02016-04-28T17:44Znever https://disorders.eyes.arizona.edu/handouts/fibrosis-extraocular-muscles-cfeom3c2015-03-10T23:26Znever 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https://disorders.eyes.arizona.edu/references/codas-syndrome-associated-mutations-lonp1-encoding-mitochondrial-aaa-lon-protease2015-03-15T23:43Znever https://disorders.eyes.arizona.edu/references/newly-recognized-syndrome-cerebral-ocular-dental-auricular-skeletal-anomalies-codas-syndr2015-03-15T23:44Znever https://disorders.eyes.arizona.edu/references/inheritance-novel-col8a2-mutation-defines-distince-early-onset-subtype-fuchs-corneal2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/codas-syndrome2017-06-03T22:37Znever https://disorders.eyes.arizona.edu/references/autosomal-dominant-microcephaly-associated-congenital-lymphedema-and-chorioretinopathy-du2015-03-16T02:04Znever https://disorders.eyes.arizona.edu/handouts/beare-stevenson-syndrome2015-03-18T00:00Znever https://disorders.eyes.arizona.edu/references/beare-stevenson-cutis-gyrata-syndrome2015-03-17T23:52Znever https://disorders.eyes.arizona.edu/references/second-case-beare-stevenson-syndrome-fgfr2-ser372cys-mutation2015-03-17T23:53Znever https://disorders.eyes.arizona.edu/disorders/beare-stevenson-syndrome2017-04-18T19:04Znever https://disorders.eyes.arizona.edu/references/beare-stevenson-syndrome-two-new-patients-including-novel-finding-tracheal-cartilaginous-2015-03-18T21:58Znever https://disorders.eyes.arizona.edu/handouts/jackson-weiss-syndrome2015-03-19T16:54Znever https://disorders.eyes.arizona.edu/references/craniosynostosis-midfacial-hypoplasia-and-foot-abnormalities-autosomal-dominant-phenotype2015-03-19T16:46Znever https://disorders.eyes.arizona.edu/references/century-jackson-weiss-syndrome-further-definition-clinical-and-radiographic-findings-lost2015-03-19T16:48Znever https://disorders.eyes.arizona.edu/references/inheritance-fuchs-combined-dystrophy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/jackson-weiss-syndrome2017-10-30T22:13Znever 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https://disorders.eyes.arizona.edu/disorders/cole-carpenter-syndrome-12017-06-03T23:01Znever https://disorders.eyes.arizona.edu/references/bone-fragility-craniosynostosis-ocular-proptosis-hydrocephalus-and-distinctive-facial-fea2015-04-15T01:56Znever https://disorders.eyes.arizona.edu/references/mutations-sec24d-encoding-component-copii-machinery-cause-syndromic-form-osteogenesis-imp2015-04-15T03:18Znever https://disorders.eyes.arizona.edu/handouts/cole-carpenter-syndrome-22015-04-15T20:40Znever https://disorders.eyes.arizona.edu/references/missense-mutations-col8a2the-gene-encoding-alpha2-chain-type-viii-collagen-cause-two2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/cole-carpenter-syndrome-22017-06-03T23:10Znever https://disorders.eyes.arizona.edu/disorders/alstr%C3%B6m-syndrome-02017-04-12T23:10Znever https://disorders.eyes.arizona.edu/handouts/singleton-merten-syndrome-12015-04-16T02:08Znever https://disorders.eyes.arizona.edu/references/specific-ifih1-gain-function-mutation-causes-singleton-merten-syndrome2015-04-16T02:01Znever https://disorders.eyes.arizona.edu/disorders/singleton-merten-syndrome-12016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/singleton-merten-syndrome-autosomal-dominant-disorder-variable-expression2015-04-16T02:14Znever https://disorders.eyes.arizona.edu/handouts/singleton-merten-syndrome-22015-04-16T18:01Znever https://disorders.eyes.arizona.edu/disorders/singleton-merten-syndrome-22016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/mutations-ddx58-which-encodes-rig-i-cause-atypical-singleton-merten-syndrome2015-04-18T00:24Znever https://disorders.eyes.arizona.edu/handouts/chorioretinopathy-microcephaly-32015-04-19T23:48Znever https://disorders.eyes.arizona.edu/references/progression-fuchs-corneal-dystrophy-family-linked-fcd1-locus2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/mutations-tubgcp4-alter-microtubule-organization-%CE%B3-tubulin-ring-complex-autosomal-recessi2015-04-19T23:45Znever https://disorders.eyes.arizona.edu/disorders/chorioretinopathy-microcephaly-32016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/ataxia-oculomotor-apraxia-42015-04-20T23:25Znever https://disorders.eyes.arizona.edu/references/mutations-pnkp-cause-recessive-ataxia-oculomotor-apraxia-type-42015-04-20T23:05Znever https://disorders.eyes.arizona.edu/disorders/ataxia-oculomotor-apraxia-42017-04-24T20:01Znever https://disorders.eyes.arizona.edu/references/clinical-spectrum-eye-malformations-four-patients-mowat-wilson-syndrome2015-04-30T23:10Znever https://disorders.eyes.arizona.edu/handouts/angiopathy-hereditary-nephropathy-aneurysms-and-muscle-cramps2015-05-04T21:24Znever https://disorders.eyes.arizona.edu/references/autosomal-dominant-familial-hematuria-retinal-arteriolar-tortuosity-and-contractures-nove2015-05-04T21:15Znever https://disorders.eyes.arizona.edu/references/novel-col4a1-mutations-associated-hanac-syndrome-role-triple-helical-cb3iv-domain2015-05-04T21:16Znever https://disorders.eyes.arizona.edu/disorders/angiopathy-hereditary-nephropathy-aneurysms-and-muscle-cramps2017-04-12T23:29Znever https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-fuchs-endothelial-early-onset2017-06-16T22:26Znever https://disorders.eyes.arizona.edu/handouts/kabuki-syndrome-12015-05-08T23:57Znever https://disorders.eyes.arizona.edu/references/mll2-and-kdm6a-mutations-patients-kabuki-syndrome2015-05-08T02:47Znever https://disorders.eyes.arizona.edu/references/kabuki-make-niikawa-kuroki-syndrome-study-62-patients2015-05-08T02:50Znever https://disorders.eyes.arizona.edu/disorders/kabuki-syndrome-12016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/three-generation-x-linked-family-kabuki-syndrome-phenotype-and-frameshift-mutation-kdm6a2015-05-11T02:19Znever https://disorders.eyes.arizona.edu/references/molecular-analysis-pathogenic-mechanisms-and-readthrough-therapy-large-cohort-kabuki-synd2015-05-11T02:20Znever https://disorders.eyes.arizona.edu/handouts/kabuki-syndrome-22015-07-06T21:50Znever https://disorders.eyes.arizona.edu/disorders/kabuki-syndrome-22017-09-01T18:29Znever https://disorders.eyes.arizona.edu/references/predominantly-cone-system-dysfunction-rare-form-retinal-degeneration-patients-molecularly2015-05-24T21:48Znever https://disorders.eyes.arizona.edu/handouts/cataracts-congenital-deafness-short-stature-developmental-delay2015-05-28T23:37Znever https://disorders.eyes.arizona.edu/references/inheritance-fuchs-endothelial-dystrophy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/apparently-new-syndrome-congenital-cataracts-sensorineural-deafness-down-syndrome-facial-2015-05-28T23:24Znever https://disorders.eyes.arizona.edu/references/syndrome-congenital-cataracts-sensorineural-deafness-down-syndrome-facial-appearance-shor2015-05-28T23:26Znever https://disorders.eyes.arizona.edu/references/mutations-impairing-gsk3-mediated-maf-phosphorylation-cause-cataract-deafness-intellectua2015-05-28T23:27Znever https://disorders.eyes.arizona.edu/disorders/cataracts-congenital-deafness-short-stature-developmental-delay2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/increasing-complexity-new-genes-and-new-types-albinism2015-06-14T22:08Znever https://disorders.eyes.arizona.edu/references/oca5-novel-locus-non-syndromic-oculocutaneous-albinism-maps-chromosome-4q242015-06-14T22:35Znever https://disorders.eyes.arizona.edu/handouts/albinism-oculocutaneous-type-v2015-06-14T23:35Znever 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https://disorders.eyes.arizona.edu/references/peroxisomal-disorder-severe-intellectual-disability-epilepsy-and-cataracts-due-fatty-acyl2015-06-18T18:07Znever https://disorders.eyes.arizona.edu/handouts/peroxisomol-fatty-acyl-coa-reductase-1-disorder2015-06-23T00:03Znever https://disorders.eyes.arizona.edu/disorders/peroxisomol-fatty-acyl-coa-reductase-1-disorder2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/nemaline-myopathy-102015-06-18T22:10Znever https://disorders.eyes.arizona.edu/references/leiomodin-3-dysfunction-results-thin-filament-disorganization-and-nemaline-myopathy2015-06-18T21:54Znever https://disorders.eyes.arizona.edu/disorders/nemaline-myopathy-102016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/fuchs-endothelial-dystrophy-cornea2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/handouts/cataracts-432016-12-19T22:43Znever https://disorders.eyes.arizona.edu/references/myosin-chaperone-unc45b-involved-lens-development-and-autosomal-dominant-juvenile-catarac2015-06-19T01:56Znever https://disorders.eyes.arizona.edu/disorders/cataracts-432017-05-09T16:35Znever https://disorders.eyes.arizona.edu/handouts/3-methylglutaconic-aciduria-cataracts-neurologic-involvement-and-neurtropenia2015-06-23T01:39Znever https://disorders.eyes.arizona.edu/references/clpb-mutations-cause-3-methylglutaconic-aciduria-progressive-brain-atrophy-intellectual-d2015-06-23T01:32Znever https://disorders.eyes.arizona.edu/references/clpb-variants-associated-autosomal-recessive-mitochondrial-disorder-cataract-neutropenia-2015-06-23T01:30Znever https://disorders.eyes.arizona.edu/references/disruption-clpb-associated-congenital-microcephaly-severe-encephalopathy-and-3-methylglut2015-06-23T01:31Znever https://disorders.eyes.arizona.edu/disorders/3-methylglutaconic-aciduria-cataracts-neurologic-involvement-and-neurtropenia2016-04-28T18:09Znever https://disorders.eyes.arizona.edu/handouts/cataracts-13-congenital-adult-i-rbc-phenotype2017-01-17T18:27Znever https://disorders.eyes.arizona.edu/references/phenotype-i-associated-congenital-cataract-japanese2015-06-23T23:06Znever https://disorders.eyes.arizona.edu/references/cataract-surgery-patients-fuchscorneal-dystrophy-expanding-recommendations-cataract2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/molecular-genetics-human-i-locus-and-molecular-background-explain-partial-association-adu2015-06-23T23:08Znever https://disorders.eyes.arizona.edu/disorders/cataracts-13-congenital-adult-i-rbc-phenotype2017-04-27T17:13Znever https://disorders.eyes.arizona.edu/references/molecular-genetics-blood-group-i-system-and-regulation-i-antigen-expression-during-erythr2015-06-23T23:22Znever https://disorders.eyes.arizona.edu/references/incontinentia-pigmenti-comprehensive-review-and-update2015-06-28T21:12Znever https://disorders.eyes.arizona.edu/handouts/pontocerebellar-hypoplasia-32015-06-30T17:09Znever https://disorders.eyes.arizona.edu/references/loss-pclo-function-underlies-pontocerebellar-hypoplasia-type-iii2015-06-30T00:08Znever https://disorders.eyes.arizona.edu/references/pontocerebellar-hypoplasia-type-iii-clam-extended-phenotype-and-novel-molecular-findings2015-06-30T00:10Znever https://disorders.eyes.arizona.edu/disorders/pontocerebellar-hypoplasia-32016-04-28T18:09Znever https://disorders.eyes.arizona.edu/references/recurrent-mutations-basic-domain-twist2-cause-ablepharon-macrostomia-and-barber-say-syndr2015-07-05T22:25Znever https://disorders.eyes.arizona.edu/references/barber-say-syndrome-father-and-daughter2015-07-06T23:10Znever https://disorders.eyes.arizona.edu/references/elucidating-molecular-genetic-basis-corneal-dystrophies-are-we-there-yet2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/barber-say-syndrome-father-and-daughter-02015-07-07T00:04Znever 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https://disorders.eyes.arizona.edu/references/mutations-sipa1l3-cause-eye-defects-through-disruption-cell-polarity-and-cytoskeleton2016-04-25T18:10Znever https://disorders.eyes.arizona.edu/handouts/developmental-delay-short-stature-dysmorphic-features-and-sparse-hair2016-04-25T21:00Znever https://disorders.eyes.arizona.edu/disorders/developmental-delay-short-stature-dysmorphic-features-and-sparse-hair2017-12-05T17:34Znever https://disorders.eyes.arizona.edu/references/accelerating-novel-candidate-gene-discovery-neurogenetic-disorders-whole-exome-sequencing2016-04-25T20:41Znever https://disorders.eyes.arizona.edu/references/matching-two-cohorts-validates-dph1-gene-responsible-autosomal-recessive-intellectual2016-04-25T20:56Znever https://disorders.eyes.arizona.edu/references/optical2016-05-09T22:29Znever https://disorders.eyes.arizona.edu/references/detailed-clinical-phenotyping-oxalate-maculopathy-primary-hyperoxaluria2017-08-18T17:43Znever https://disorders.eyes.arizona.edu/handouts/macular-dystrophy-patterned-22016-05-13T23:19Znever https://disorders.eyes.arizona.edu/disorders/macular-dystrophy-patterned-22017-11-04T00:01Znever https://disorders.eyes.arizona.edu/references/long-term-outcome-optic-nerve-encasement-and-optic-nerve-decompression-patients-fibrous2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/mutations-ctnna1-cause-butterfly-shaped-pigment-dystrophy-and-perturbed-retinal-pigment2016-05-12T00:10Znever https://disorders.eyes.arizona.edu/references/identification-novel-locus-autosomal-dominant-butterfly-shaped-macular-dystrophy-5q2122016-05-12T00:14Znever https://disorders.eyes.arizona.edu/references/butterfly-shaped-pigment-dystrophy-fovea2016-05-12T00:15Znever https://disorders.eyes.arizona.edu/references/eye-movement-disorders-are-early-manifestation-cacna1a-mutations-children2016-05-13T23:23Znever 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https://disorders.eyes.arizona.edu/references/multi-system-neurological-disease-common-patients-opa1-mutations-02016-05-16T21:34Znever https://disorders.eyes.arizona.edu/references/behr-syndrome-clinicopathologic-report2016-05-16T21:36Znever https://disorders.eyes.arizona.edu/references/early-onset-behr-syndrome-due-compound-heterozygous-mutations-opa12016-05-16T21:38Znever https://disorders.eyes.arizona.edu/disorders/behr-syndrome2017-04-18T22:00Znever https://disorders.eyes.arizona.edu/references/fatal-infantile-mitochondrial-encephalomyopathy-hypertrophic-cardiomyopathy-and-optic2016-05-16T23:28Znever https://disorders.eyes.arizona.edu/handouts/hypotonia-infantile-psychomotor-retardation-and-characteristic-facies-32016-05-18T22:44Znever https://disorders.eyes.arizona.edu/disorders/hypotonia-infantile-psychomotor-retardation-and-characteristic-facies-32018-01-05T20:00Znever https://disorders.eyes.arizona.edu/references/recessive-inactivating-mutations-tbck-encoding-rab-gtpase-activating-protein-cause-severe2016-05-18T22:47Znever https://disorders.eyes.arizona.edu/references/mutations-tbck-encoding-tbc1-domain-containing-kinase-lead-recognizable-syndrome2016-05-18T22:52Znever https://disorders.eyes.arizona.edu/references/reappraisal-clinical-spectrum-north-carolina-macular-dystrophy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/mutations-pigy-expanding-phenotype-inherited-glycosylphosphatidylinositol-deficiencies2016-05-20T17:47Znever https://disorders.eyes.arizona.edu/disorders/hyperphosphatasia-mental-retardation-syndrome-62017-10-25T22:50Znever https://disorders.eyes.arizona.edu/handouts/hyperphosphatasia-mental-retardation-syndrome-62016-05-20T17:56Znever https://disorders.eyes.arizona.edu/handouts/spastic-paraplegia-optic-atrophy-and-neuropathy2016-05-21T00:14Znever https://disorders.eyes.arizona.edu/references/overexpression-klc2-due-homozygous-deletion-non-coding-region-causes-spoan-syndrome2016-05-21T00:05Znever https://disorders.eyes.arizona.edu/references/spastic-paraplegia-optic-atrophy-and-neuropathy-linked-chromosome-11q132016-05-21T00:07Znever https://disorders.eyes.arizona.edu/disorders/spastic-paraplegia-optic-atrophy-and-neuropathy2016-05-21T00:13Znever https://disorders.eyes.arizona.edu/handouts/corpus-callosum-agenesis-facial-anomalies-and-cerebellar-ataxia2016-05-21T23:33Znever https://disorders.eyes.arizona.edu/references/syndrome-congenital-microcephaly-intellectual-disability-and-dysmorphism-homozygous2016-05-21T23:24Znever https://disorders.eyes.arizona.edu/disorders/corpus-callosum-agenesis-facial-anomalies-and-cerebellar-ataxia2016-05-21T23:39Znever https://disorders.eyes.arizona.edu/references/clinical-characterization-and-genetic-mapping-north-carolina-macular-dystrophy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/barber-say-syndrome-and-ablepharon-macrostomia-syndrome-overview2016-05-22T18:27Znever https://disorders.eyes.arizona.edu/handouts/cerebellar-atrophy-visual-impairment-and-psychomotor-retardation2016-05-22T22:01Znever https://disorders.eyes.arizona.edu/references/monoallelic-and-biallelic-variants-emc1-identified-individuals-global-developmental-delay2017-05-18T19:03Znever https://disorders.eyes.arizona.edu/disorders/cerebellar-atrophy-visual-impairment-and-psychomotor-retardation2016-05-22T22:04Znever https://disorders.eyes.arizona.edu/handouts/encephalocraniocutaneous-lipomatosis2017-07-28T21:53Znever https://disorders.eyes.arizona.edu/references/mosaic-activating-mutations-fgfr1-cause-encephalocraniocutaneous-lipomatosis2016-05-23T23:28Znever https://disorders.eyes.arizona.edu/references/encephalocraniocutaneous-lipomatosis2016-05-23T23:30Znever https://disorders.eyes.arizona.edu/disorders/encephalocraniocutaneous-lipomatosis2017-07-28T21:46Znever https://disorders.eyes.arizona.edu/references/north-carolina-macular-dystrophy-revisited2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/spectrum-clinical-signs-and-genetic-characterization-gelatinous-drop-corneal-dystrophy2016-06-02T18:23Znever https://disorders.eyes.arizona.edu/references/primary-hyperoxaluria-infants2016-06-02T18:29Znever https://disorders.eyes.arizona.edu/handouts/hypotonia-infantile-psychomotor-retardation-and-characteristic-facies-12016-06-05T21:36Znever https://disorders.eyes.arizona.edu/references/mutations-nalcn-cause-autosomal-recessive-syndrome-severe-hypotonia-speech-impairment-and2016-06-05T21:27Znever https://disorders.eyes.arizona.edu/references/dysmorphic-face-two-siblings-infantile-neuroaxonal-dystrophy2016-06-05T21:29Znever https://disorders.eyes.arizona.edu/disorders/hypotonia-infantile-psychomotor-retardation-and-characteristic-facies-12018-07-17T19:39Znever https://disorders.eyes.arizona.edu/handouts/spastic-paraplegia-112016-06-05T22:29Znever https://disorders.eyes.arizona.edu/references/spg11-mutations-cause-kjellin-syndrome-hereditary-spastic-paraplegia-thin-corpus-callosum2016-06-05T22:08Znever https://disorders.eyes.arizona.edu/references/mutations-spg11-encoding-spatacsin-are-major-cause-spastic-paraplegia-thin-corpus2016-06-05T22:10Znever https://disorders.eyes.arizona.edu/disorders/spastic-paraplegia-112018-10-12T18:51Znever https://disorders.eyes.arizona.edu/references/hereditary-macular-dystrophy-and-amino-aciduria2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/handouts/leukodystrophy-hypomyelinating-132016-06-06T18:30Znever https://disorders.eyes.arizona.edu/references/leukoencephalopathy-and-early-death-associated-ashkenazi-jewish-founder-mutation-hikeshi2017-09-13T23:17Znever https://disorders.eyes.arizona.edu/disorders/leukodystrophy-hypomyelinating-132017-09-13T23:36Znever https://disorders.eyes.arizona.edu/handouts/spinocerebellar-ataxia-422016-06-06T22:40Znever https://disorders.eyes.arizona.edu/references/recurrent-mutation-cacna1g-alters-cav31-t-type-calcium-channel-conduction-and-causes2016-06-06T22:29Znever https://disorders.eyes.arizona.edu/references/mutation-low-voltage-gated-calcium-channel-cacna1g-alters-physiological-properties2016-06-06T22:33Znever https://disorders.eyes.arizona.edu/disorders/spinocerebellar-ataxia-422017-03-27T17:21Znever https://disorders.eyes.arizona.edu/references/juvenile-cataract-autosomal-recessive-inheritance-study-aland-islands-finland2016-06-07T19:12Znever https://disorders.eyes.arizona.edu/references/familial-gelatinous-drop-corneal-dystrophy-caused-novel-nonsense-tacstd2-mutation2016-06-07T22:41Znever https://disorders.eyes.arizona.edu/handouts/marfan-lipodystrophy-syndrome2016-06-08T01:46Znever https://disorders.eyes.arizona.edu/disorders/macular-dystrophy-north-carolina2018-11-08T18:12Znever https://disorders.eyes.arizona.edu/references/neonatal-progeroid-variant-marfan-syndrome-congenital-lipodystrophy-results-mutations-32016-06-08T01:34Znever https://disorders.eyes.arizona.edu/references/severe-congenital-lipodystrophy-and-progeroid-appearance-mutation-penultimate-exon-fbn12016-06-08T01:36Znever https://disorders.eyes.arizona.edu/disorders/marfan-lipodystrophy-syndrome2017-03-24T22:16Znever https://disorders.eyes.arizona.edu/handouts/foveal-hypoplasia-22016-06-10T23:18Znever https://disorders.eyes.arizona.edu/references/new-phenotype-recessively-inherited-foveal-hypoplasia-and-anterior-segment-dysgenesis-02016-06-10T23:09Znever https://disorders.eyes.arizona.edu/references/isolated-foveal-hypoplasia-secondary-nystagmus-and-low-vision-associated-homozygous2016-06-10T23:11Znever https://disorders.eyes.arizona.edu/disorders/foveal-hypoplasia-22017-12-05T18:33Znever https://disorders.eyes.arizona.edu/handouts/progeroid-short-stature-pigmented-nevi2016-06-13T21:57Znever https://disorders.eyes.arizona.edu/references/retinal-features-mulvihill-smith-syndrome2016-06-13T21:40Znever https://disorders.eyes.arizona.edu/references/mulvihill-smith-syndrome-case-report-and-review2016-06-13T21:42Znever https://disorders.eyes.arizona.edu/references/peters-anomaly-and-associated-congenital-malformations2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/progeroid-short-stature-pigmented-nevi2016-06-13T21:56Znever https://disorders.eyes.arizona.edu/handouts/heart-and-brain-malformation-syndrome2016-06-13T23:31Znever https://disorders.eyes.arizona.edu/references/mutations-smg9-encoding-essential-component-nonsense-mediated-decay-machinery-cause2016-06-13T23:22Znever https://disorders.eyes.arizona.edu/disorders/heart-and-brain-malformation-syndrome2016-06-13T23:36Znever https://disorders.eyes.arizona.edu/references/congenital-stationary-night-blindness-hypoplastic-discs-negative-electroretinogram-and2016-06-14T18:44Znever https://disorders.eyes.arizona.edu/handouts/mental-retardation-x-linked-99-syndromic-female-restricted2016-08-23T17:38Znever https://disorders.eyes.arizona.edu/references/mutations-usp9x-are-associated-x-linked-intellectual-disability-and-disrupt-neuronal-cell2016-06-14T23:04Znever https://disorders.eyes.arizona.edu/references/de-novo-loss-function-mutations-usp9x-cause-female-specific-recognizable-syndrome2016-06-14T23:06Znever https://disorders.eyes.arizona.edu/disorders/mental-retardation-x-linked-99-syndromic-female-restricted2016-08-23T17:34Znever https://disorders.eyes.arizona.edu/handouts/cerebral-palsy-spastic-quadriplegic-32016-06-29T23:15Znever https://disorders.eyes.arizona.edu/references/surgical-management-glaucoma-infants-and-children-peters-anomaly-long-term-structural-and2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/mutations-gamma-adducin-are-associated-inherited-cerebral-palsy2017-05-20T23:44Znever https://disorders.eyes.arizona.edu/disorders/cerebral-palsy-spastic-quadriplegic-32017-05-20T23:43Znever https://disorders.eyes.arizona.edu/references/novel-homozygous-cyp4v2-variant-ps121y-associated-choroideremia-phenotype2016-07-05T17:55Znever https://disorders.eyes.arizona.edu/references/frequency-phenotypic-characteristics-and-progression-atrophy-associated-diseased-bruchs2016-07-05T18:27Znever https://disorders.eyes.arizona.edu/handouts/arthrogryposis-perthes-disease-and-upward-gaze-palsy2016-07-08T23:14Znever https://disorders.eyes.arizona.edu/references/arthrogryposis-perthes-disease-and-upward-gaze-palsy-novel-autosomal-recessive-syndromic2016-07-08T23:17Znever https://disorders.eyes.arizona.edu/references/accelerating-matchmaking-novel-dysmorphology-syndromes-through-clinical-and-genomic2016-07-08T23:19Znever https://disorders.eyes.arizona.edu/disorders/arthrogryposis-perthes-disease-and-upward-gaze-palsy2017-04-16T17:27Znever https://disorders.eyes.arizona.edu/references/bardet-biedl-syndrome2016-07-10T23:55Znever https://disorders.eyes.arizona.edu/handouts/retinitis-pigmentosa-752016-07-11T22:09Znever https://disorders.eyes.arizona.edu/disorders/peters-anomaly2016-05-02T18:01Znever https://disorders.eyes.arizona.edu/references/expanding-clinical-allelic-and-locus-heterogeneity-retinal-dystrophies2016-07-11T21:49Znever https://disorders.eyes.arizona.edu/references/exome-sequencing-reveals-agbl5-novel-candidate-gene-and-additional-variants-retinitis2016-07-11T21:51Znever https://disorders.eyes.arizona.edu/disorders/retinitis-pigmentosa-752016-07-11T22:10Znever https://disorders.eyes.arizona.edu/references/mutations-nek9-cause-nevus-comedonicus2016-07-12T17:10Znever https://disorders.eyes.arizona.edu/handouts/night-blindness-congenital-stationary-csnb1h2016-07-12T21:50Znever https://disorders.eyes.arizona.edu/references/biallelic-mutations-gnb3-cause-unique-form-autosomal-recessive-congenital-stationary2016-07-12T21:45Znever https://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnb1h2017-12-05T19:11Znever https://disorders.eyes.arizona.edu/references/ophthalmic-sequelae-pfeiffer-syndrome-and-long-term-visual-outcomes-after-craniofacial2016-07-18T21:13Znever https://disorders.eyes.arizona.edu/handouts/duane-retraction-syndrome-32016-07-19T18:08Znever https://disorders.eyes.arizona.edu/disorders/duane-retraction-syndrome-32017-03-23T18:32Znever https://disorders.eyes.arizona.edu/references/jejunal-atresia-and-anterior-chamber-anomalies-further-delineation-stromme-syndrome2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/loss-mafb-function-humans-and-mice-causes-duane-syndrome-aberrant-extraocular-muscle2016-07-19T18:05Znever 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https://disorders.eyes.arizona.edu/references/cohen-syndrome-report-nine-cases-and-review-literature-emphasis-ophthalmic-features2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/lacrimal-gland-involvement-blepharophimosis-ptosis-epicanthus-inversus-syndrome2016-12-11T17:33Znever https://disorders.eyes.arizona.edu/handouts/cone-rod-dystrophy-hearing-loss2016-12-19T19:40Znever https://disorders.eyes.arizona.edu/references/cep78-mutated-distinct-type-usher-syndrome2016-12-19T19:24Znever https://disorders.eyes.arizona.edu/references/bi-allelic-truncating-mutations-cep78-encoding-centrosomal-protein-78-cause-cone-rod2016-12-19T19:27Znever https://disorders.eyes.arizona.edu/references/mutations-cep78-cause-cone-rod-dystrophy-and-hearing-loss-associated-primary-cilia2016-12-19T19:29Znever https://disorders.eyes.arizona.edu/disorders/cone-rod-dystrophy-hearing-loss2017-02-20T22:11Znever https://disorders.eyes.arizona.edu/handouts/cataracts-342016-12-19T23:45Znever https://disorders.eyes.arizona.edu/references/localization-autosomal-recessive-congenital-cataracts-consanguineous-pakistani-families-02016-12-19T23:38Znever https://disorders.eyes.arizona.edu/disorders/cataracts-342017-05-09T16:32Znever https://disorders.eyes.arizona.edu/references/incidence-and-predictors-sudden-death-major-conduction-defects-and-sustained-ventricular2016-12-21T23:32Znever https://disorders.eyes.arizona.edu/references/cohen-syndrome-caused-mutations-novel-gene-coh1-encoding-transmembrane-protein-presumed2017-06-03T22:48Znever https://disorders.eyes.arizona.edu/disorders/glaucoma-congenital-primary-e2017-08-10T17:55Znever https://disorders.eyes.arizona.edu/references/angiopoietin-receptor-tek-mutations-underlie-primary-congenital-glaucoma-variable2016-12-27T23:03Znever https://disorders.eyes.arizona.edu/handouts/glaucoma-congenital-primary-e2017-08-09T23:34Znever https://disorders.eyes.arizona.edu/references/previously-unidentified-deletion-g-protein-coupled-receptor-143-causing-x-linked2017-01-07T00:05Znever https://disorders.eyes.arizona.edu/handouts/dystonia-childhood-onset-optic-atrophy2017-01-09T21:12Znever https://disorders.eyes.arizona.edu/disorders/dystonia-childhood-onset-optic-atrophy2017-12-05T17:47Znever https://disorders.eyes.arizona.edu/references/mecr-mutations-cause-childhood-onset-dystonia-and-optic-atrophy-mitochondrial-fatty-acid2017-01-09T21:23Znever https://disorders.eyes.arizona.edu/references/deletion-gcnt2-locus-causes-autosomal-recessive-congenital-cataracts2017-01-17T17:56Znever https://disorders.eyes.arizona.edu/handouts/meester-loeys-syndrome2017-01-24T22:48Znever https://disorders.eyes.arizona.edu/disorders/meester-loeys-syndrome2017-12-05T18:58Znever https://disorders.eyes.arizona.edu/disorders/cohen-syndrome2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/loss-function-mutations-x-linked-biglycan-gene-cause-severe-syndromic-form-thoracic2017-01-24T22:44Znever https://disorders.eyes.arizona.edu/handouts/anterior-segment-dysgenesis-82017-01-30T21:20Znever https://disorders.eyes.arizona.edu/references/mutations-cpamd8-cause-unique-form-autosomal-recessive-anterior-segment-dysgenesis2017-01-27T23:11Znever https://disorders.eyes.arizona.edu/disorders/anterior-segment-dysgenesis-82017-04-15T20:50Znever https://disorders.eyes.arizona.edu/handouts/anterior-segment-dysgenesis-62017-01-30T21:24Znever https://disorders.eyes.arizona.edu/disorders/anterior-segment-dysgenesis-62017-04-15T21:17Znever https://disorders.eyes.arizona.edu/references/phenotypic-heterogeneity-cyp1b1-mutations-patient-peters-anomaly2017-01-30T22:20Znever https://disorders.eyes.arizona.edu/references/spectral-domain-optical-coherence-tomography-findings-alstr%C3%B6m-syndrome2017-02-05T21:39Znever https://disorders.eyes.arizona.edu/handouts/myopia-25-autosomal-dominant-nonsyndromic2017-02-06T19:53Znever https://disorders.eyes.arizona.edu/references/mutations-p4ha2-encoding-prolyl-4-hydroxylase-2-are-associated-nonsyndromic-high-myopia2017-02-06T19:48Znever https://disorders.eyes.arizona.edu/handouts/cohen-syndrome2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/myopia-25-autosomal-dominant-nonsyndromic2017-03-25T20:02Znever https://disorders.eyes.arizona.edu/handouts/optic-atrophy-112017-02-07T19:09Znever https://disorders.eyes.arizona.edu/references/homozygous-yme1l1-mutation-causes-mitochondriopathy-optic-atrophy-and-mitochondrial2017-02-07T19:00Znever https://disorders.eyes.arizona.edu/disorders/optic-atrophy-112017-02-07T19:08Znever https://disorders.eyes.arizona.edu/references/foxe3-contributes-peters-anomaly-through-transcriptional-regulation-autophagy-associated2017-02-08T19:08Znever https://disorders.eyes.arizona.edu/handouts/retinitis-pigmentosa-772017-02-09T01:36Znever https://disorders.eyes.arizona.edu/references/mutations-reep6-cause-autosomal-recessive-retinitis-pigmentosa2017-02-09T00:21Znever https://disorders.eyes.arizona.edu/disorders/retinitis-pigmentosa-772017-02-13T18:06Znever https://disorders.eyes.arizona.edu/handouts/intellectual-disability-dysmorphic-facies-and-ptosis2017-02-09T20:03Znever https://disorders.eyes.arizona.edu/disorders/intellectual-disability-dysmorphic-facies-and-ptosis2017-10-30T21:53Znever https://disorders.eyes.arizona.edu/references/hereditary-x-linked-juvenile-retinoschisis-review-role-muller-cells2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/mutations-histone-acetylase-modifier-brpf1-cause-autosomal-dominant-form-intellectual2017-02-09T19:56Znever https://disorders.eyes.arizona.edu/references/mutations-chromatin-regulator-gene-brpf1-cause-syndromic-intellectual-disability-and2017-02-09T20:00Znever https://disorders.eyes.arizona.edu/handouts/coloboma-microphthalmia-albinism-and-deafness2017-02-10T23:46Znever https://disorders.eyes.arizona.edu/references/biallelic-mutations-mitf-cause-coloboma-osteopetrosis-microphthalmia-macrocephaly2017-02-10T23:30Znever https://disorders.eyes.arizona.edu/disorders/coloboma-microphthalmia-albinism-and-deafness2017-06-03T23:38Znever https://disorders.eyes.arizona.edu/references/biallelic-mutations-tbcd-encoding-tubulin-folding-cofactor-d-perturb-microtubule-dynamics2017-02-13T19:00Znever https://disorders.eyes.arizona.edu/references/biallelic-tbcd-mutations-cause-early-onset-neurodegenerative-encephalopathy2017-02-13T19:02Znever https://disorders.eyes.arizona.edu/handouts/encephalopathy-early-onset-brain-atrophy-and-thin-corpus-callosum2017-02-13T19:47Znever https://disorders.eyes.arizona.edu/disorders/encephalopathy-early-onset-brain-atrophy-and-thin-corpus-callosum2017-06-26T23:35Znever https://disorders.eyes.arizona.edu/handouts/epileptic-encephalopathy-early-infantile-482017-02-14T20:45Znever https://disorders.eyes.arizona.edu/references/x-linked-retinoschisis-update2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/clinical-genomics-expands-morbid-genome-intellectual-disability-and-offers-high2017-02-14T20:37Znever https://disorders.eyes.arizona.edu/references/autosomal-recessive-mutations-ap3b2-adaptor-related-protein-complex-3-beta-2-subunit2017-02-14T20:39Znever https://disorders.eyes.arizona.edu/disorders/epileptic-encephalopathy-early-infantile-482017-06-27T21:09Znever https://disorders.eyes.arizona.edu/handouts/encephalopathy-progressive-amyotrophy-and-optic-atrophy2017-07-28T22:09Znever https://disorders.eyes.arizona.edu/references/tbce-mutations-cause-early-onset-progressive-encephalopathy-distal-spinal-muscular2017-02-17T16:40Znever 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https://disorders.eyes.arizona.edu/references/genetic-causes-nonsyndromic-congenital-retinal-detachment-genetic-and-phenotypic-study2017-03-21T21:29Znever https://disorders.eyes.arizona.edu/references/japanese-family-autosomal-dominant-oculocutaneous-albinism-type-42017-03-21T22:25Znever https://disorders.eyes.arizona.edu/references/tocilizumab-reverses-cerebral-vasculopathy-patient-homozygous-samhd1-mutation2017-03-22T18:10Znever https://disorders.eyes.arizona.edu/references/peripheral-fundus-findings-x-linked-retinoschisis2017-04-04T22:31Znever https://disorders.eyes.arizona.edu/handouts/muscular-dystrophy-congenital-cataracts-and-intellectual-disability2017-04-05T23:34Znever https://disorders.eyes.arizona.edu/disorders/muscular-dystrophy-congenital-cataracts-and-intellectual-disability2017-10-02T23:38Znever https://disorders.eyes.arizona.edu/references/mutations-inpp5k-encoding-phosphoinositide-5-phosphatase-cause-congenital-muscular2017-04-05T23:24Znever https://disorders.eyes.arizona.edu/references/mutations-inpp5k-cause-form-congenital-muscular-dystrophy-overlapping-marinesco-sj%C3%B6gren2017-04-05T23:25Znever https://disorders.eyes.arizona.edu/references/mutations-cornea-specific-keratin-k3-or-k12-genes-cause-meesmanns-corneal-dystrophy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/clinical-and-laboratory-diagnosis-peroxisomal-disorders2017-04-16T23:41Znever https://disorders.eyes.arizona.edu/references/pathological-confirmation-optic-neuropathy-familial-dysautonomia2017-04-17T00:06Znever https://disorders.eyes.arizona.edu/references/clinical-reappraisal-short-syndrome-pik3r1-mutations-towards-recommendation-molecular2017-04-17T18:43Znever https://disorders.eyes.arizona.edu/handouts/short-syndrome2017-04-17T20:16Znever https://disorders.eyes.arizona.edu/references/mutations-pik3r1-cause-short-syndrome2017-04-17T20:03Znever https://disorders.eyes.arizona.edu/references/clinical-reappraisal-short-syndrome-pik3r1-mutations-toward-recommendation-molecular2017-04-17T20:05Znever https://disorders.eyes.arizona.edu/disorders/short-syndrome2017-12-05T19:17Znever https://disorders.eyes.arizona.edu/handouts/autoinflammation-arthritis-and-dyskeratosis2017-04-19T03:02Znever https://disorders.eyes.arizona.edu/references/new-autoinflammatory-and-autoimmune-syndrome-associated-nlrp1-mutations-naiad-nlrp12017-04-19T02:47Znever https://disorders.eyes.arizona.edu/references/vitamin-deficiency-phrynoderma-associated-chronic-giardiasis2017-04-19T02:49Znever https://disorders.eyes.arizona.edu/references/meesmanns-epithelial-dystrophy-cornea2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/autoinflammation-arthritis-and-dyskeratosis2017-04-19T03:01Znever https://disorders.eyes.arizona.edu/references/refinement-x-linked-nonsyndromic-high-grade-myopia-locus-myp1-xq28-and-exclusion-13-known2017-04-21T17:37Znever 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https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-meesmann2017-06-20T23:51Znever https://disorders.eyes.arizona.edu/handouts/ataxia-oculomotor-apraxia-32017-04-24T18:59Znever https://disorders.eyes.arizona.edu/references/missense-mutation-pik3r5-gene-family-ataxia-and-oculomotor-apraxia2017-04-24T18:52Znever https://disorders.eyes.arizona.edu/disorders/ataxia-oculomotor-apraxia-32017-12-05T17:01Znever https://disorders.eyes.arizona.edu/handouts/retinitis-pigmentosa-792017-05-02T21:39Znever https://disorders.eyes.arizona.edu/references/missense-mutation-hk1-leads-autosomal-dominant-retinitis-pigmentosa2017-05-01T23:03Znever https://disorders.eyes.arizona.edu/disorders/retinitis-pigmentosa-792018-07-17T18:54Znever https://disorders.eyes.arizona.edu/references/dominant-mutation-hexokinase-1-hk1-causes-retinitis-pigmentosa2017-05-01T23:15Znever https://disorders.eyes.arizona.edu/handouts/retinitis-pigmentosa-782017-05-02T21:35Znever https://disorders.eyes.arizona.edu/references/biallelic-mutation-arhgef18-involved-determination-epithelial-apicobasal-polarity-causes2017-05-02T21:42Znever https://disorders.eyes.arizona.edu/disorders/retinitis-pigmentosa-782017-05-02T21:56Znever https://disorders.eyes.arizona.edu/references/subset-patients-epithelial-basement-membrane-corneal-dystrophy-have-mutations-tgfbibigh32016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/novel-connexin-50-gja8-mutation-chinese-family-dominant-congenital-pulverulent-nuclear2017-05-07T17:44Znever https://disorders.eyes.arizona.edu/references/new-mutations-gja8-expand-phenotype-include-total-sclerocornea2017-05-08T21:57Znever https://disorders.eyes.arizona.edu/references/mutations-tmco3-gene-are-associated-cornea-guttata-and-anterior-polar-cataract2017-05-09T17:13Znever https://disorders.eyes.arizona.edu/references/favourable-effect-early-versus-late-start-enzyme-replacement-therapy-plasma2017-05-19T18:32Znever https://disorders.eyes.arizona.edu/references/ocular-pathology-oculocerebrorenal-syndrome-lowe-novel-mutations-and-genotype-phenotype2017-05-19T18:40Znever https://disorders.eyes.arizona.edu/handouts/retinitis-pigmentosa-or-without-skeletal-anomalies2017-05-23T22:42Znever https://disorders.eyes.arizona.edu/references/mutations-spliceosome-component-cwc27-cause-retinal-degeneration-or-without-additional2017-05-23T22:17Znever https://disorders.eyes.arizona.edu/references/retinitis-pigmentosa-mental-retardation-marked-short-stature-and-brachydactyly-two-sibs2017-05-23T22:26Znever https://disorders.eyes.arizona.edu/references/retinitis-pigmentosa-mental-retardation-marked-short-stature-and-brachydactyly-two-sibs-02017-05-23T22:26Znever https://disorders.eyes.arizona.edu/disorders/retinitis-pigmentosa-or-without-skeletal-anomalies2017-05-23T22:41Znever https://disorders.eyes.arizona.edu/references/prevalence-map-dot-fingerprint-changes-cornea2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/posterior-amorphous-corneal-dystrophy-caused-de-novo-deletion2017-05-25T19:17Znever https://disorders.eyes.arizona.edu/references/ophthalmologic-findings-patient-cerebellar-ataxia-hypogonadotropic-hypogonadism-and2017-05-26T18:03Znever https://disorders.eyes.arizona.edu/references/renal-anomalies-and-lymphedema-distichiasis-syndrome2017-09-13T23:55Znever https://disorders.eyes.arizona.edu/references/znhit3-defective-peho-syndrome-severe-encephalopathy-cerebellar-granule-neuron-loss2017-06-04T19:35Znever https://disorders.eyes.arizona.edu/handouts/peho-syndrome-02017-06-06T17:39Znever https://disorders.eyes.arizona.edu/disorders/peho-syndrome-02017-06-06T18:04Znever https://disorders.eyes.arizona.edu/references/peho-syndrome2017-06-06T18:00Znever https://disorders.eyes.arizona.edu/references/mutations-impairing-gsk3-mediated-maf-phosphorylation-cause-cataract-deafness2017-06-07T22:05Znever https://disorders.eyes.arizona.edu/references/syndrome-congenital-cataracts-sensorineural-deafness-down-syndrome-facial-appearance2017-06-07T22:07Znever https://disorders.eyes.arizona.edu/references/apparently-new-syndrome-congenital-cataracts-sensorineural-deafness-down-syndrome-facial2017-06-07T22:09Znever https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-epithelial-basement-membrane2016-05-02T17:53Znever https://disorders.eyes.arizona.edu/disorders/ayme-gripp-syndrome2017-06-08T20:10Znever https://disorders.eyes.arizona.edu/references/novel-missense-mutation-bzip-transcription-factor-maf-associated-congenital-cataract2017-06-08T19:55Znever https://disorders.eyes.arizona.edu/handouts/retinitis-pigmentosa-472017-06-08T22:55Znever https://disorders.eyes.arizona.edu/disorders/retinitis-pigmentosa-472018-07-17T19:07Znever https://disorders.eyes.arizona.edu/references/novel-dominant-mutation-sag-arrestin-1-gene-common-cause-retinitis-pigmentosa-hispanic2017-06-08T22:48Znever https://disorders.eyes.arizona.edu/references/arrestin-gene-mutations-autosomal-recessive-retinitis-pigmentosa2017-06-08T22:50Znever https://disorders.eyes.arizona.edu/references/decorin-accumulation-contributes-stromal-opacities-found-congenital-stromal-corneal2017-06-12T22:13Znever https://disorders.eyes.arizona.edu/references/ic3d-classification-corneal-dystrophies-edition-22017-06-12T23:05Znever https://disorders.eyes.arizona.edu/references/posterior-polymorphous-corneal-dystrophy-czech-families-maps-chromosome-20-and-excludes2017-06-15T21:15Znever https://disorders.eyes.arizona.edu/references/aicardi-syndrome-and-cognitive-abilities-report-five-cases2017-06-27T17:23Znever https://disorders.eyes.arizona.edu/references/linkage-mapping-thiel-behnke-corneal-dystrophy-cdb2-chromosome-10q23-q242016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/multimodal-imaging-cabp4-related-retinopathy2017-06-27T17:48Znever 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https://disorders.eyes.arizona.edu/handouts/neurodevelopmental-disorder-progressive-microcephaly-spasticity-and-brain-anomalies2017-07-06T19:26Znever https://disorders.eyes.arizona.edu/references/plaa-mutations-cause-lethal-infantile-epileptic-encephalopathy-disrupting-ubiquitin2017-07-06T19:15Znever https://disorders.eyes.arizona.edu/references/hitherto-unknown-subepithelial-hereditary-corneal-dystrophy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/phospholipase-a2-activating-protein-associated-novel-form-leukoencephalopathy2017-07-06T19:18Znever https://disorders.eyes.arizona.edu/disorders/neurodevelopmental-disorder-progressive-microcephaly-spasticity-and-brain-anomalies2017-07-06T19:30Znever https://disorders.eyes.arizona.edu/references/colec10-mutated-3mc-patients-and-regulates-early-craniofacial-development2017-07-07T23:03Znever https://disorders.eyes.arizona.edu/references/michels-syndrome-carnevale-syndrome-osa-syndrome-and-malpuech-syndrome-variable2017-07-07T23:06Znever https://disorders.eyes.arizona.edu/references/apparent-malpuech-syndrome-report-three-brazilian-patients-additional-signs2017-07-07T23:08Znever https://disorders.eyes.arizona.edu/references/mutations-lectin-complement-pathway-genes-colec11-and-masp1-cause-3mc-syndrome2017-07-07T23:10Znever https://disorders.eyes.arizona.edu/disorders/3mc-syndromes2017-07-08T19:31Znever https://disorders.eyes.arizona.edu/handouts/3mc-syndromes2017-07-08T19:31Znever https://disorders.eyes.arizona.edu/handouts/gabriele-de-vries-syndrome2017-07-10T22:11Znever https://disorders.eyes.arizona.edu/references/yy1-haploinsufficiency-causes-intellectual-disability-syndrome-featuring-transcriptional2017-07-10T22:04Znever 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https://disorders.eyes.arizona.edu/references/vivo-laser-confocal-microscopy-findings-bowmans-layer-dystrophies-thiel-behnke-and-reis2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/molecular-study-33-families-fraser-syndrome-new-data-and-mutation-review2017-09-27T21:36Znever https://disorders.eyes.arizona.edu/references/fraser-syndrome-due-homozygosity-splice-site-mutation-frem22017-09-27T22:24Znever https://disorders.eyes.arizona.edu/references/mutations-grip1-cause-fraser-syndrome-02017-09-27T23:26Znever https://disorders.eyes.arizona.edu/disorders/fraser-syndrome-32017-10-04T18:42Znever https://disorders.eyes.arizona.edu/references/fraser-syndrome-due-homozygosity-splice-site-mutation-frem2-02017-09-27T23:42Znever https://disorders.eyes.arizona.edu/references/identification-new-gene-mutated-fraser-syndrome-and-mouse-myelencephalic-blebs2017-09-27T23:43Znever https://disorders.eyes.arizona.edu/disorders/fraser-syndrome-22017-10-04T18:38Znever https://disorders.eyes.arizona.edu/references/inpp5k-variant-causes-autosomal-recessive-congenital-cataract-pakistani-family2017-10-02T23:36Znever https://disorders.eyes.arizona.edu/handouts/fraser-syndrome-22017-10-03T22:02Znever https://disorders.eyes.arizona.edu/handouts/fraser-syndrome-32017-10-03T22:47Znever https://disorders.eyes.arizona.edu/references/new-band-shaped-and-whorled-microcystic-dystrophy-corneal-epithelium2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/blepharocheilodontic-syndrome-cdh1-pathway-related-disorder-due-mutations-cdh1-and-ctnnd12017-10-04T20:24Znever https://disorders.eyes.arizona.edu/disorders/blepharocheilodontic-syndrome-22017-11-15T23:46Znever https://disorders.eyes.arizona.edu/handouts/blepharocheilodontic-syndrome-22017-10-04T20:55Znever https://disorders.eyes.arizona.edu/handouts/al-kaissi-syndrome2017-10-06T19:57Znever https://disorders.eyes.arizona.edu/disorders/al-kaissi-syndrome2017-10-06T20:11Znever https://disorders.eyes.arizona.edu/references/cdk10-mutations-humans-and-mice-cause-severe-growth-retardation-spine-malformations-and2017-10-06T20:06Znever https://disorders.eyes.arizona.edu/references/homozygous-truncating-variants-tbc1d23-cause-pontocerebellar-hypoplasia-and-alter2017-10-06T23:10Znever https://disorders.eyes.arizona.edu/references/homozygous-mutations-tbc1d23-lead-non-degenerative-form-pontocerebellar-hypoplasia2017-10-06T23:12Znever https://disorders.eyes.arizona.edu/disorders/pontocerebellar-hypoplasia-112017-10-10T18:22Znever https://disorders.eyes.arizona.edu/references/isolated-sulfite-oxidase-deficiency2017-10-08T22:37Znever https://disorders.eyes.arizona.edu/references/lisch-corneal-dystrophy-genetically-distinct-meesmann-corneal-dystrophy-and-maps-xp2232016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/axenfeld-rieger-syndrome2017-10-08T22:40Znever https://disorders.eyes.arizona.edu/references/intrathecal-baclofen-treatment-option-x-linked-adrenoleukodystrophy2017-10-08T22:43Znever https://disorders.eyes.arizona.edu/references/hematopoietic-stem-cell-gene-therapy-cerebral-adrenoleukodystrophy2017-10-08T22:48Znever https://disorders.eyes.arizona.edu/references/multiplex-epithelium-dysfunction-due-cldn10-mutation-helix-syndrome2017-10-09T19:04Znever https://disorders.eyes.arizona.edu/references/altered-paracellular-cation-permeability-due-rare-cldn10b-variant-causes-anhidrosis-and2017-10-09T19:06Znever https://disorders.eyes.arizona.edu/disorders/helix-syndrome2017-10-23T19:03Znever https://disorders.eyes.arizona.edu/handouts/helix-syndrome2017-10-09T20:02Znever https://disorders.eyes.arizona.edu/handouts/pontocerebellar-hypoplasia-112017-10-10T18:23Znever https://disorders.eyes.arizona.edu/references/biallelic-mutations-mrps34-lead-instability-small-mitoribosomal-subunit-and-leigh2017-10-10T21:33Znever https://disorders.eyes.arizona.edu/handouts/combined-oxidative-phosphorylation-deficiency-322017-10-10T22:28Znever https://disorders.eyes.arizona.edu/references/contact-lens-induced-regression-lisch-epithelial-corneal-dystrophy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/combined-oxidative-phosphorylation-deficiency-322017-10-10T22:30Znever https://disorders.eyes.arizona.edu/references/mutations-antxr1-cause-gapo-syndrome2017-10-11T19:21Znever https://disorders.eyes.arizona.edu/references/role-laser-peripheral-iridotomy-pigmentary-glaucoma-and-pigment-dispersion-syndrome2017-10-16T18:18Znever https://disorders.eyes.arizona.edu/references/new-ocular-finding-baraitser-winter-syndrome2017-10-16T18:33Znever https://disorders.eyes.arizona.edu/references/first-genetic-analysis-atypical-phenotype-pseudoxanthoma-elasticum-ocular-manifestations2017-10-16T18:56Znever https://disorders.eyes.arizona.edu/references/familial-isolated-hypoparathyroidism-molecular-genetic-analysis-8-families-23-affected2017-10-25T23:07Znever https://disorders.eyes.arizona.edu/references/visual-acuity-patients-stargardt-disease-after-age-402017-10-29T19:51Znever https://disorders.eyes.arizona.edu/references/deletion-3-pax6-gene-familial-aniridia-cases2017-11-03T23:18Znever https://disorders.eyes.arizona.edu/references/involvement-pelvic-girdle-and-proximal-leg-muscles-early-oculopharyngeal-muscular2017-11-14T19:19Znever https://disorders.eyes.arizona.edu/references/mutations-dnm1l-opa1-result-dominant-optic-atrophy-despite-opposite-effects-mitochondrial2017-11-15T22:29Znever https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-lisch-epithelial2017-06-16T23:47Znever https://disorders.eyes.arizona.edu/references/additional-features-gillespie-syndrome-two-brazilian-siblings-novel-itpr1-homozygous2017-12-01T19:08Znever https://disorders.eyes.arizona.edu/references/temporal-retinal-thinning-and-diagnosis-alport-syndrome-and-thin-basement-membrane2017-12-04T18:10Znever https://disorders.eyes.arizona.edu/references/alagille-syndrome-overview2017-12-04T18:22Znever https://disorders.eyes.arizona.edu/references/ophthalmic-features-cone-rod-dystrophy-caused-pathogenic-variants-alms1-gene2017-12-04T18:38Znever https://disorders.eyes.arizona.edu/references/knobloch-syndrome-associated-polymicrogyria-and-early-onset-retinal-detachment-two-case2017-12-04T18:52Znever https://disorders.eyes.arizona.edu/references/localized-twist1-and-twist2-basic-domain-substitutions-cause-four-distinct-human-diseases2017-12-06T17:26Znever https://disorders.eyes.arizona.edu/references/diagnostic-value-exome-and-whole-genome-sequencing-craniosynostosis2017-12-06T17:29Znever https://disorders.eyes.arizona.edu/disorders/sweeney-cox-syndrome2017-12-06T18:27Znever https://disorders.eyes.arizona.edu/disorders/sweeney-cox-syndrome-02017-12-06T17:59Znever https://disorders.eyes.arizona.edu/handouts/sweeney-cox-syndrome2017-12-06T18:26Znever https://disorders.eyes.arizona.edu/references/allelic-and-locus-heterogeneity-autosomal-recessive-gelatinous-drop-corneal-dystrophy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/ophthalmic-phenotype-ift140-related-ciliopathy-ranges-isolated-syndromic-congenital2017-12-07T18:39Znever https://disorders.eyes.arizona.edu/references/mutations-human-ift140-cause-non-syndromic-retinal-degeneration2017-12-07T18:41Znever https://disorders.eyes.arizona.edu/references/nonsyndromic-retinal-dystrophy-due-bi-allelic-mutations-ciliary-transport-gene-ift1402017-12-07T18:44Znever https://disorders.eyes.arizona.edu/disorders/retinitis-pigmentosa-802018-07-17T18:59Znever https://disorders.eyes.arizona.edu/handouts/retinitis-pigmentosa-802017-12-07T20:25Znever https://disorders.eyes.arizona.edu/references/clinical-and-genetic-heterogeneity-keratosis-follicularis-spinulosa-decalvans2017-12-10T23:08Znever https://disorders.eyes.arizona.edu/references/keratosis-follicularis-spinulosa-decalvans-family2017-12-10T23:10Znever https://disorders.eyes.arizona.edu/disorders/keratosis-follicularis-spinulosa-decalvans-ad2017-12-10T23:51Znever https://disorders.eyes.arizona.edu/handouts/keritosis-follicular-spinulosa-decalvans-ad2017-12-10T23:50Znever https://disorders.eyes.arizona.edu/references/guca1a-mutation-causes-maculopathy-five-generation-family-wide-spectrum-severity2017-12-18T18:07Znever https://disorders.eyes.arizona.edu/references/primary-familial-amyloidosis-cornea2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/novel-gucy2d-mutation-v933a-causes-central-areolar-choroidal-dystrophy2017-12-18T18:36Znever https://disorders.eyes.arizona.edu/handouts/choroidal-dystrophy-central-areolar-22017-12-18T20:49Znever https://disorders.eyes.arizona.edu/references/mutations-human-retinal-degeneration-slow-rds-gene-can-cause-either-retinitis-pigmentosa2017-12-18T20:40Znever https://disorders.eyes.arizona.edu/disorders/choroidal-dystrophy-central-areolar-22018-01-16T17:19Znever https://disorders.eyes.arizona.edu/references/lethal-form-spinocerebellar-ataxia-type-7-early-onset-childhood2017-12-28T22:49Znever https://disorders.eyes.arizona.edu/references/bladder-dysfunction-wolfram-syndrome-highly-prevalent-and-progresses-megacystis2017-12-31T17:37Znever https://disorders.eyes.arizona.edu/handouts/hypotonia-infantile-psychomotor-retardation-and-characteristic-facies-22018-01-05T19:27Znever https://disorders.eyes.arizona.edu/references/biallelic-mutations-unc80-cause-persistent-hypotonia-encephalopathy-growth-retardation2018-01-05T19:13Znever https://disorders.eyes.arizona.edu/references/mutations-unc80-encoding-part-unc79-unc80-nalcn-channel-complex-cause-autosomal-recessive2018-01-05T19:15Znever 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https://disorders.eyes.arizona.edu/references/deficiency-wars2-encoding-mitochondrial-tryptophanyl-trna-synthetase-causes-severe2018-01-08T23:36Znever https://disorders.eyes.arizona.edu/disorders/neurodevelopmental-disorder-mitochondrial-abnormal-movements-and-lactic-acidosis2018-01-09T19:10Znever https://disorders.eyes.arizona.edu/handouts/facial-palsy-congenital-ptosis-and-velopharyngeal-dysfunction2018-01-09T21:01Znever https://disorders.eyes.arizona.edu/disorders/facial-palsy-congenital-ptosis-and-velopharyngeal-dysfunction2018-04-27T18:41Znever https://disorders.eyes.arizona.edu/references/tubb6-mutation-associated-autosomal-dominant-non-progressive-congenital-facial-palsy2018-01-09T20:55Znever https://disorders.eyes.arizona.edu/references/eyelid-cysts-gorlin-syndrome-review-and-reappraisal2018-01-11T15:54Znever https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-gelatinous-drop2017-06-16T23:03Znever 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https://disorders.eyes.arizona.edu/disorders/brown-vialetto-van-laere-syndrome-22018-07-17T19:46Znever https://disorders.eyes.arizona.edu/references/presentation-trpm1-associated-congenital-stationary-night-blindness-children2018-03-13T18:43Znever https://disorders.eyes.arizona.edu/references/ocular-findings-patient-fucosidosis2018-03-13T18:49Znever https://disorders.eyes.arizona.edu/references/meibomian-gland-dysfunction-and-keratopathy-are-associated-dry-eye-disease-aniridia2018-03-13T19:36Znever https://disorders.eyes.arizona.edu/references/rubinstein-taybi-2-associated-novel-ep300-mutations-deepening-clinical-and-genetic2018-03-14T21:20Znever https://disorders.eyes.arizona.edu/references/family-history-corneal-erosions2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/whole-exome-sequencing-family-trios-reveals-de-novo-mutations-pura-cause-severe2018-03-14T23:29Znever https://disorders.eyes.arizona.edu/references/de-novo-mutations-pura-are-associated-hypotonia-and-developmental-delay2018-03-14T23:31Znever https://disorders.eyes.arizona.edu/references/mutations-pura-cause-profound-neonatal-hypotonia-seizures-and-encephalopathy-5q3132018-03-14T23:33Znever https://disorders.eyes.arizona.edu/references/expanding-neurodevelopmental-phenotype-pura-syndrome2018-03-14T23:35Znever https://disorders.eyes.arizona.edu/handouts/mental-retardation-ad-312018-03-15T18:22Znever https://disorders.eyes.arizona.edu/disorders/mental-retardation-ad-312018-03-15T18:20Znever https://disorders.eyes.arizona.edu/references/high-rate-recurrent-de-novo-mutations-developmental-and-epileptic-encephalopathies2018-03-21T19:05Znever https://disorders.eyes.arizona.edu/disorders/epileptic-encephalopathy-infantile-or-early-childhood-22018-03-21T19:17Znever https://disorders.eyes.arizona.edu/handouts/epileptic-encephalopathy-infantile-or-early-childhood-22018-03-21T19:16Znever https://disorders.eyes.arizona.edu/handouts/epileptic-encephalopathy-early-infantile-582018-03-22T22:07Znever https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-recurrent-epithelial-erosions2017-06-23T18:21Znever https://disorders.eyes.arizona.edu/disorders/epileptic-encephalopathy-early-infantile-582018-03-22T22:06Znever https://disorders.eyes.arizona.edu/handouts/mental-retardation-ad-532018-03-23T19:03Znever https://disorders.eyes.arizona.edu/references/de-novo-mutations-protein-kinase-genes-camk2a-and-camk2b-cause-intellectual-disability2018-03-23T18:55Znever https://disorders.eyes.arizona.edu/disorders/mental-retardation-ad-532018-03-23T19:02Znever https://disorders.eyes.arizona.edu/handouts/spastic-paraplegia-5a2018-03-24T21:11Znever https://disorders.eyes.arizona.edu/references/hereditary-spastic-paraplegia-type-5-natural-history-biomarkers-and-randomized-controlled2018-03-24T21:01Znever https://disorders.eyes.arizona.edu/references/cyp7b1-mutations-pure-and-complex-forms-hereditary-spastic-paraplegia-type-52018-03-24T21:02Znever https://disorders.eyes.arizona.edu/references/sequence-alterations-within-cyp7b1-implicate-defective-cholesterol-homeostasis-motor2018-03-24T21:04Znever https://disorders.eyes.arizona.edu/disorders/spastic-paraplegia-5a2018-10-12T19:09Znever https://disorders.eyes.arizona.edu/references/glaucoma-crouzon-syndrome2018-03-30T22:19Znever https://disorders.eyes.arizona.edu/references/subepithelial-mucinous-corneal-dystrophy-clinical-and-pathological-correlations2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/what-have-we-learned-about-exfoliation-syndrome-its-discovery-john-lindberg-100-years-ago2018-03-30T22:32Znever https://disorders.eyes.arizona.edu/references/congenital-glaucoma-and-cyp1b1-old-story-revisited2018-03-30T22:45Znever https://disorders.eyes.arizona.edu/references/jalili-syndrome-cross-sectional-and-longitudinal-features-seven-patients-cone-rod2018-04-03T18:03Znever https://disorders.eyes.arizona.edu/references/de-novo-mutations-tuba3d-are-associated-keratoconus2018-04-04T19:21Znever https://disorders.eyes.arizona.edu/disorders/keratoconus-92018-12-11T17:49Znever https://disorders.eyes.arizona.edu/handouts/keratoconus-92018-04-04T22:32Znever https://disorders.eyes.arizona.edu/references/plasminogen-replacement-therapy-treatment-children-and-adults-congenital-plasminogen2018-04-09T22:32Znever https://disorders.eyes.arizona.edu/references/macular-corneal-dystrophy-review2018-04-09T23:34Znever https://disorders.eyes.arizona.edu/references/ophthalmic-manifestations-heimler-syndrome-due-pex6-mutations2018-04-22T18:14Znever https://disorders.eyes.arizona.edu/references/stickler-syndrome-children-radiological-review2018-04-23T21:15Znever https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-subepithelial-mucinous2016-05-02T17:54Znever https://disorders.eyes.arizona.edu/disorders/heimler-syndrome-12018-04-24T23:30Znever https://disorders.eyes.arizona.edu/references/heimler-syndrome-caused-hypomorphic-mutations-peroxisome-biogenesis-genes-pex1-and-pex62018-04-23T23:00Znever https://disorders.eyes.arizona.edu/handouts/heimler-syndrome-12018-04-24T22:39Znever https://disorders.eyes.arizona.edu/references/spectrum-pex1-and-pex6-variants-heimler-syndrome2018-04-24T23:27Znever https://disorders.eyes.arizona.edu/references/elsahy-waters-syndrome-caused-biallelic-mutations-cdh112018-04-28T20:08Znever https://disorders.eyes.arizona.edu/handouts/schurrs-hoeijmakers-syndrome2018-04-28T22:53Znever https://disorders.eyes.arizona.edu/disorders/schurrs-hoeijmakers-syndrome2018-04-28T22:52Znever https://disorders.eyes.arizona.edu/references/expanding-phenotype-recurrent-de-novo-variant-pacs1-causing-intellectual-disability2018-04-28T22:44Znever https://disorders.eyes.arizona.edu/references/clinical-delineation-pacs1-related-syndrome-report-19-patients2018-04-28T22:47Znever https://disorders.eyes.arizona.edu/references/meckel-gruber-syndrome-update-diagnosis-clinical-management-and-research-advances2018-05-02T19:04Znever https://disorders.eyes.arizona.edu/references/macular-corneal-dystrophy-iceland-clinical-genealogic-and-immunohistochemical-study-282016-04-28T17:44Znever https://disorders.eyes.arizona.edu/handouts/elsahy-waters-syndrome2018-05-02T21:07Znever https://disorders.eyes.arizona.edu/disorders/elsahy-waters-syndrome2018-05-02T21:11Znever https://disorders.eyes.arizona.edu/references/homozygous-indel-mutation-cdh11-probable-cause-elsahy-waters-syndrome2018-05-02T21:05Znever https://disorders.eyes.arizona.edu/handouts/microcephaly-20-primary-autosomal-recessive2018-05-18T02:21Znever https://disorders.eyes.arizona.edu/disorders/microcephaly-20-primary-autosomal-recessive2018-05-18T02:21Znever https://disorders.eyes.arizona.edu/references/biallelic-variants-kif14-cause-intellectual-disability-microcephaly2018-05-18T02:16Znever https://disorders.eyes.arizona.edu/references/mutations-kif14-cause-primary-microcephaly-impairing-cytokinesis2018-05-18T02:18Znever https://disorders.eyes.arizona.edu/references/kearns-sayre-syndrome-genetically-and-phenotypically-heterogeneous2018-06-11T17:27Znever https://disorders.eyes.arizona.edu/references/retinal-and-optic-nerve-degeneration-%CE%B1-mannosidosis2018-06-11T17:46Znever https://disorders.eyes.arizona.edu/references/ocular-findings-mannosidosis-02018-06-11T17:57Znever https://disorders.eyes.arizona.edu/references/linkage-gene-macular-corneal-dystrophy-chromosome-162016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/clinical-manifestations-mannosidosis-longitudinal-study2018-06-11T18:05Znever https://disorders.eyes.arizona.edu/references/retinal-dystrophy-2-brothers-%CE%B1-mannosidosis2018-06-12T23:44Znever https://disorders.eyes.arizona.edu/references/late-onset-retinal-dystrophy-alpha-mannosidosis-02018-06-12T23:46Znever https://disorders.eyes.arizona.edu/references/slc52a2-mutations-cause-scabd2-phenotype-second-report2018-06-16T23:31Znever https://disorders.eyes.arizona.edu/references/extended-follow-treated-and-untreated-retinopathy-incontinentia-pigmenti-analysis2018-06-16T23:50Znever https://disorders.eyes.arizona.edu/references/evidence-aortic-dissection-and-marfan-syndrome-mummy-capuchin-catacombs-palermo-sicily2018-06-18T18:11Znever https://disorders.eyes.arizona.edu/handouts/leukodystrophy-hypomyelinating-152018-06-21T19:28Znever https://disorders.eyes.arizona.edu/disorders/leukodystrophy-hypomyelinating-152018-06-21T19:40Znever https://disorders.eyes.arizona.edu/references/bi-allelic-mutations-eprs-encoding-glutamyl-prolyl-aminoacyl-trna-synthetase-cause2018-06-21T19:31Znever https://disorders.eyes.arizona.edu/handouts/corneal-dystrophy-posterior-polymorphous-42018-06-29T22:40Znever https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular2018-04-09T23:35Znever https://disorders.eyes.arizona.edu/references/ectopic-grhl2-expression-due-non-coding-mutations-promotes-cell-state-transition-and2018-06-29T22:29Znever https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-posterior-polymorphous-42018-06-29T22:43Znever https://disorders.eyes.arizona.edu/references/ocular-findings-noonan-syndrome-retrospective-cohort-study-105-patients2018-07-02T19:35Znever https://disorders.eyes.arizona.edu/references/2-bp-deletion-mitochondrial-atp-6-gene-responsible-narp-neuropathy-ataxia-and-retinitis2018-07-19T21:07Znever https://disorders.eyes.arizona.edu/references/meta-analysis-2104-trios-provides-support-10-new-genes-intellectual-disability2018-07-20T20:50Znever https://disorders.eyes.arizona.edu/references/de-novo-and-inherited-loss-function-variants-tlk2-clinical-and-genotype-phenotype2018-07-20T20:52Znever https://disorders.eyes.arizona.edu/disorders/mental-retardation-ad-572018-07-20T21:13Znever https://disorders.eyes.arizona.edu/handouts/mental-retardation-ad-572018-07-20T21:14Znever https://disorders.eyes.arizona.edu/references/homozygous-intronic-mitf-mutation-causes-severe-waardenburg-syndrome-type-2a2018-08-20T22:22Znever https://disorders.eyes.arizona.edu/references/biallelic-deletions-waardenburg-ii-syndrome-gene-sox10-cause-recognizable-arthrogryposis2018-08-20T22:18Znever https://disorders.eyes.arizona.edu/references/three-autosomal-dominant-corneal-dystrophies-map-chromosome-5q2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/retinal-detachment-and-infantile-onset-glaucoma-stickler-syndrome-associated-known-and2018-08-28T18:43Znever https://disorders.eyes.arizona.edu/references/ocular-albinism-infertility-and-late-onset-sensorineural-hearing-loss2018-09-06T17:12Znever https://disorders.eyes.arizona.edu/references/intrafamilial-clinical-variability-four-families-incontinentia-pigmenti2018-09-06T18:02Znever https://disorders.eyes.arizona.edu/references/clinical-characterization-stargardt-disease-patients-pn1868i-abca4-mutation2018-09-21T21:23Znever https://disorders.eyes.arizona.edu/references/mutations-exosc2-are-associated-novel-syndrome-characterised-retinitis-pigmentosa2018-10-03T21:22Znever https://disorders.eyes.arizona.edu/disorders/short-stature-hearing-loss-retinitis-pigmentosa-and-distinctive-facies2018-10-03T22:22Znever https://disorders.eyes.arizona.edu/handouts/short-stature-hearing-loss-retinitis-pigmentosa-and-distinctive-facies2018-10-03T22:11Znever https://disorders.eyes.arizona.edu/references/beneficial-effects-vision-patients-undergoing-retinal-gene-therapy-choroideremia2018-10-16T18:23Znever https://disorders.eyes.arizona.edu/references/changes-retinal-sensitivity-after-gene-therapy-choroideremia2018-10-16T18:26Znever https://disorders.eyes.arizona.edu/handouts/usher-syndrome-type-iv2018-10-18T21:33Znever https://disorders.eyes.arizona.edu/references/recurrence-corneal-dystrophy-after-excimer-laser-phototherapeutic-keratectomy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/homozygous-founder-missense-variant-arylsulfatase-g-abolishes-its-enzymatic-activity2018-10-18T21:24Znever https://disorders.eyes.arizona.edu/disorders/usher-syndrome-type-iv2018-10-18T21:31Znever https://disorders.eyes.arizona.edu/references/ocular-findings-case-pierson-syndrome-novel-mutation-laminin-%C3%9F2-gene2018-10-22T19:54Znever https://disorders.eyes.arizona.edu/references/choroidal-neovascularization-north-carolina-macular-dystrophy-responsive-anti-vascular2018-11-08T18:07Znever https://disorders.eyes.arizona.edu/references/joubert-syndrome-ophthalmological-findings-correlation-genotype-and-hepatorenal-disease2018-11-16T17:17Znever https://disorders.eyes.arizona.edu/references/new-perspective-oculoplastic-surgical-management-symptomatic-distichiasis-lymphedema2018-12-09T21:39Znever https://disorders.eyes.arizona.edu/references/autosomal-recessive-noonan-syndrome-associated-biallelic-lztr1-variants2018-12-18T17:10Znever https://disorders.eyes.arizona.edu/handouts/baker-gordon-syndrome2018-12-19T22:44Znever https://disorders.eyes.arizona.edu/references/identification-human-synaptotagmin-1-mutation-perturbs-synaptic-vesicle-cycling2018-12-19T22:54Znever https://disorders.eyes.arizona.edu/references/syt1-associated-neurodevelopmental-disorder-case-series2018-12-19T22:56Znever https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-granular2017-07-31T17:55Znever https://disorders.eyes.arizona.edu/disorders/baker-gordon-syndrome2018-12-19T23:04Znever https://disorders.eyes.arizona.edu/references/variable-expression-flecked-speckled-dystrophy-cornea2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/clinical-and-histopathological-study-fran%C3%A7ois-neetens-speckled-corneal-dystrophy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/mutations-pip5k3-are-associated-fran%C3%A7ois-neetens-mouchet%C3%A9e-fleck-corneal-dystrophy2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/references/mutations2016-04-28T17:44Znever https://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-fleck2017-06-16T22:18Znever 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https://disorders.eyes.arizona.edu/handouts/rothmund-thomson-syndrome2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/references/clinical-manifestations-cohort-41-rothmund-thomson-syndrome-patients2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/references/variable-presentation-rothmund-thomson-syndrome2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/disorders/rothmund-thomson-syndrome2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/references/infantile-nystagmus-current-concepts-diagnosis-and-management2016-04-28T17:43Znever https://disorders.eyes.arizona.edu/references/linkage-18qter-differentiates-two-clinically-overlapping-syndromes-congenital-cataracts2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/references/congenital-cataracts-facial-dysmorphism-neuropathy-syndrome-novel-complex-genetic-disease2016-04-28T17:45Znever 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https://disorders.eyes.arizona.edu/references/heredopathia-ophthalmo-oto-encephalica2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/references/cataract-deafness-cerebellar-ataxia-psychosis-and-dementia-new-syndrome2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/disorders/cerebral-amyloid-angiopathy2017-05-20T18:29Znever https://disorders.eyes.arizona.edu/handouts/night-blindness-congenital-stationary-csnb1a2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/handouts/night-blindness-congenital-stationary-csnb1b2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/handouts/night-blindness-congenital-stationary-csnb1c2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/handouts/night-blindness-congenital-stationary-csnb2a2016-05-01T18:35Znever https://disorders.eyes.arizona.edu/handouts/night-blindness-congenital-stationary-csnb2b2016-04-28T17:45Znever 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https://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnb1a2016-07-13T22:33Znever https://disorders.eyes.arizona.edu/references/night-blindness-and-abnormal-cone-electroretinogram-responses-patients-mutations-grm62016-04-28T17:45Znever https://disorders.eyes.arizona.edu/references/mutations-grm6-cause-autosomal-recessive-congenital-stationary-night-blindness2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnb1b2016-07-13T22:35Znever https://disorders.eyes.arizona.edu/references/recessive-mutations-gene-trpm1-abrogate-bipolar-cell-function-and-cause-complete2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/references/mutations-trpm1-are-common-cause-complete-congenital-stationary-night-blindness2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/references/x-linked-infantile-periodic-alternating-nystagmus2016-04-28T17:43Znever https://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnb1c2018-03-13T18:44Znever https://disorders.eyes.arizona.edu/references/localization-csnbx-csnb4-between-retinitis-pigmentosa-loci-rp2-and-rp3-proximal-xp2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/references/l-type-calcium-channel-gene-mutated-incomplete-x-linked-congenital-stationary-night2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnb2a2016-07-13T22:47Znever https://disorders.eyes.arizona.edu/references/mutations-cabp4-gene-encoding-ca2-binding-protein-4-cause-autosomal-recessive-night2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnb2b2017-06-27T17:51Znever https://disorders.eyes.arizona.edu/references/novel-mutation-within-rhodopsin-gene-thr-94-ile-causing-autosomal-dominant-congenital2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/references/dark-light-model-nightblindness-human-rhodopsin-gly-90-asp-mutation2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad12016-07-13T22:50Znever https://disorders.eyes.arizona.edu/references/heterozygous-missense-mutation-rod-cgmp-phosphodiesterase-beta-subunit-gene-autosomal2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/disorders/nystagmus-1-congenital-x-linked2017-07-31T17:29Znever https://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad22016-07-13T22:51Znever https://disorders.eyes.arizona.edu/references/missense-mutation-gene-encoding-alpha-subunit-rod-transducin-nougaret-form-congenital2016-04-28T17:45Znever https://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad32016-07-13T22:53Znever https://disorders.eyes.arizona.edu/handouts/bietti-crystalline-corneoretinal-dystrophy2016-04-28T17:45Znever 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