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Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I

Background: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disease with a low incidence rate. Indel mutations in the forkhead box L2 (FOXL2) gene cause two types of BPES that are distinguished by the presence (type I) or absence (type II) of premature ovarian fa...

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Detalles Bibliográficos
Publicado en:Int J Biol Sci
Main Authors: Chai, Peiwei, Li, Fang, Fan, Jiayan, Jia, Ruobin, Zhang, He, Fan, Xianqun
Formato: Artigo
Idioma:Inglês
Publicado: Ivyspring International Publisher 2017
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5599907/
https://ncbi.nlm.nih.gov/pubmed/28924383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7150/ijbs.19532
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