Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family

Abstract Introduction Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic disease with diverse ocular malformations. This study aimed to investigate the disease-causing gene in members of a BPES pedigree presenting with the rare features of anisometropia, unilateral p...

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Bibliographic Details
Main Authors: Zhi-Bo Lin, Zhen-Ji Chen, Hui Yang, Xing-Ru Ding, Jin Li, An-Peng Pan, Hai-Sen Sun, A.-Yong Yu, Shi-Hao Chen
Format: Article
Language:English
Published: BMC 2023-11-01
Series:BMC Ophthalmology
Subjects:
FOXL2
Whole-exome sequencing
BPES
Anisometropia
Congenital cataracts
Online Access:https://doi.org/10.1186/s12886-023-03189-5

Internet

https://doi.org/10.1186/s12886-023-03189-5

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