Novel FOXL2 mutations cause blepharophimosis‐ptosis‐epicanthus inversus syndrome with premature ovarian insufficiency

BACKGROUND: Blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) is a malformation of the eyelids. Forkhead Box L2 (FOXL2) is the only gene known to be associated with BPES. METHODS: We identified two Han Chinese BPES families with premature ovarian insufficiency (POI). Sanger sequencing and...

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Detalles Bibliográficos
Autores principales: Yang, Xiao‐Wen, He, Wen‐Bin, Gong, Fei, Li, Wen, Li, Xiu‐Rong, Zhong, Chang‐Gao, Lu, Guang‐Xiu, Lin, Ge, Du, Juan, Tan, Yue‐Qiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902393/
https://www.ncbi.nlm.nih.gov/pubmed/29378385
http://dx.doi.org/10.1002/mgg3.366

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