Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome

BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. Mutations in the forkhead box L2 (FOXL2) gene cause two types of BPES distinguished by the presence (type I) and absence (type II) of premature ovarian failure (POF). The purpose of this stu...

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Bibliographic Details
Published in:BMC Med Genet
Main Authors: Xue, Min, Zheng, Jie, Zhou, Qing, Hejtmancik, J. Fielding, Wang, Yuan, Li, Shouling
Format: Artigo
Language:Inglês
Published: BioMed Central 2015
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4593235/
https://ncbi.nlm.nih.gov/pubmed/26323275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0217-7
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