BPES Syndrome
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References
Yang XW, He WB, Gong F, Li W, Li XR, Zhong CG, Lu GX, Lin G, Du J, Tan YQ. Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency. Mol Genet Genomic Med. 2018 Jan 29. doi: 10.1002/mgg3.366. [Epub ahead of print] PubMed PMID: 29378385.
1: Yu HC, Geiger EA, Medne L, Zackai EH, Shaikh TH. An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Am J Med Genet A. 2014 Jan 23. [Epub ahead of print].
Liu CY. Wakayama Symposium: Notch-FoxL2-OE+--SMA Axis in Eyelid Levator Muscle Development and Congenital Blepharophimosis. Ocul Surf. 2012 Oct;10(4):221-3. Epub 2012 Jul 25. PubMed PMID: 23084143.
Haghighi A, Verdin H, Haghighi-Kakhki H, Piri N, Gohari NS, De Baere E. Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II. Mol Vis. 2012;18:211-8.
Dentici ML, Mingarelli R, Dallapiccola B. 2011. The difficult nosology of blepharophimosis–mental retardation syndromes: Report on two siblings. Am J Med Genet Part A 155: 459–465.
Amati P, Chomel JC, Nivelon-Chevalier A, Gilgenkrantz S, Kitzis A, Kaplan J, Bonneau D. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet. 1995 Aug;96(2):213-5.
Duarte AF, Akaishi PM, de Molfetta GA, Chodraui-Filho S, Cintra M, Toscano A, Silva WA Jr, Cruz AA. Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. Ophthalmology. 2016 Nov 30.