Identification of a novel FOXL2 mutation in a fourth-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

AIM: To characterize the genetic causes and clinical features in a four-generation Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: Thirteen patients with BPES and eight healthy family members were included in this study. All participants received routine oph...

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Bibliographic Details
Main Authors: Wei-Ning Rong, Mei-Jiao Ma, Wei Yang, Shi-Qin Yuan, Xun-Lun Sheng
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2021-04-01
Series:International Journal of Ophthalmology
Subjects:
Online Access:http://ies.ijo.cn/en_publish/2021/4/20210404.pdf