Functional Studies of Novel FOXL2 Variants in Chinese Families With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome

The blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease mainly caused by FOXL2 variants. This genetic disorder is usually characterized by eyelid malformation and ovarian dysfunction. However, no reliable genotype/phenotype correlations have been establis...

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Bibliographic Details
Published in:Front Genet
Main Authors: Li, Fang, Chen, Huifang, Wang, Yefei, Yang, Jie, Zhou, Yixiong, Song, Xin, Fan, Jiayan
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2021
Subjects:
Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8007913/
https://ncbi.nlm.nih.gov/pubmed/33796131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.616112
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