Links
[1] http://ghr.nlm.nih.gov/gene/PNPLA6
[2] https://disorders.eyes.arizona.edu/disorders/bardet-biedl-syndromes
[3] http://omim.org/entry/209900
[4] https://disorders.eyes.arizona.edu/disorders/trichomegaly-plus-syndrome
[5] http://omim.org/entry/275400
[6] https://disorders.eyes.arizona.edu/references/boucher-neuh%C3%A4user-syndrome-cerebellar-degeneration-chorioretinal-dystrophy-and-hypogonado
[7] https://disorders.eyes.arizona.edu/references/compound-heterozygous-pnpla6-mutations-cause-boucher-neuh%C3%A4user-syndrome-late-onset-ataxia
[8] https://disorders.eyes.arizona.edu/references/pnpla6-mutations-cause-boucher-neuhauser-and-gordon-holmes-syndromes-part-broad-neurodege
[9] https://disorders.eyes.arizona.edu/references/two-sibs-chorioretinal-dystrophy-hypogonadotrophic-hypogonadism-and-cerebellar-ataxia
[10] https://disorders.eyes.arizona.edu/references/ophthalmologic-findings-patient-cerebellar-ataxia-hypogonadotropic-hypogonadism-and