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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Detalles Bibliográficos
Autores principales: Xue, Min, Zheng, Jie, Zhou, Qing, Hejtmancik, J. Fielding, Wang, Yuan, Li, Shouling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593235/
https://www.ncbi.nlm.nih.gov/pubmed/26323275
http://dx.doi.org/10.1186/s12881-015-0217-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593235/
https://www.ncbi.nlm.nih.gov/pubmed/26323275
http://dx.doi.org/10.1186/s12881-015-0217-7

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