ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant genetic disorder, and mutations in the forkhead box L2 (FOXL2) gene are one of the major genetic causes. As this study shows, there are many patients with BPES who do not have FOXL2 mutations, as the screening r...

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Bibliographic Details
Main Authors: Cheng Tianling, Yuan Xiaobin, Yuan Shaopeng, Zhu Jianying, Tang Shengjian, Zhang Yujie
Format: Article
Language:English
Published: De Gruyter 2021-12-01
Series:Open Life Sciences
Subjects:
bpes
itgb5
whole-exome sequencing
pathogenic genes
dominant inheritance
Online Access:https://doi.org/10.1515/biol-2021-0129

Internet

https://doi.org/10.1515/biol-2021-0129

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