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Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II

PURPOSE: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a developmental disease characterized by a complex eyelid malformation associated or not with premature ovarian failure (POF). BPES is essentially an autosomal dominant disease, due to mutations in the forkhead box L2 (FOXL2) ge...

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Main Authors: Haghighi, Alireza, Verdin, Hannah, Haghighi-Kakhki, Hamidreza, Piri, Niloofar, Gohari, Nasrollah Saleh, De Baere, Elfride
格式: Artigo
語言:Inglês
出版: Molecular Vision 2012
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3272052/
https://ncbi.nlm.nih.gov/pubmed/22312189
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