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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Xue, Min, Zheng, Jie, Zhou, Qing, Hejtmancik, J. Fielding, Wang, Yuan, Li, Shouling
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4593235/
https://ncbi.nlm.nih.gov/pubmed/26323275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0217-7
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