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
Autores principales: Chai, Peiwei, Li, Fang, Fan, Jiayan, Jia, Ruobin, Zhang, He, Fan, Xianqun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ivyspring International Publisher 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5599907/
https://www.ncbi.nlm.nih.gov/pubmed/28924383
http://dx.doi.org/10.7150/ijbs.19532

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5599907/
https://www.ncbi.nlm.nih.gov/pubmed/28924383
http://dx.doi.org/10.7150/ijbs.19532

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