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

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

Abstract 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 L...

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Bibliographic Details
Main Authors: Lu Zhou, Jiaqi Wang, Tailing Wang
Format: Article
Language:English
Published: BMC 2018-07-01
Series:BMC Medical Genetics
Subjects:
BPES
FOXL2
Gene mutation
Online Access:http://link.springer.com/article/10.1186/s12881-018-0631-8

Internet

http://link.springer.com/article/10.1186/s12881-018-0631-8

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