Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome

BACKGROUND: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare inheritable disease that mainly affects eyelid development associated with (type I) or without (type II) ovarian dysfunction, resulting in premature ovarian failure (POF). Mutations in the gene forkhead box L2 (FOXL2...

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Detalles Bibliográficos
Autores principales: Zhou, Lu, Wang, Jiaqi, Wang, Tailing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053710/
https://www.ncbi.nlm.nih.gov/pubmed/30029625
http://dx.doi.org/10.1186/s12881-018-0631-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053710/
https://www.ncbi.nlm.nih.gov/pubmed/30029625
http://dx.doi.org/10.1186/s12881-018-0631-8

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