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FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

PURPOSE: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder where eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). It is ascribed to mutations in the forkhead transcriptional factor2 (FOXL2) gene. The purpos...

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Detalles Bibliográficos
Autores principales: Wang, Juan, Liu, Jinling, Zhang, Qingjiong
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2533039/
https://www.ncbi.nlm.nih.gov/pubmed/17277738