Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome

AIM: To discover the molecular pathogenic basis of the blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and to predict the clinical subtype according to in vitro experiments, which is significant to the prognosis. METHODS: A 3-year-old sporadic female patient with typical clinical...

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Bibliographic Details

Published in:	International Journal of Ophthalmology
Main Authors:	Yu-Cheng Yan, Lu Zhou, Jin-Cai Fan
Format:	Article
Language:	English
Published:	Press of International Journal of Ophthalmology (IJO PRESS) 2023-05-01
Subjects:	novel mutation pathogenic variant blepharophimosis-ptosis-epicanthus inversus syndrome foxl2
Online Access:	http://ies.ijo.cn/en_publish/2023/5/20230502.pdf