Identification of mutations associated with congenital cataracts in nineteen Chinese families

Identification of mutations associated with congenital cataracts in nineteen Chinese families

Abstract Background Congenital cataracts (CC) are one of the leading causes of impaired vision or blindness in children, with approximately 8.3–25% being inherited. The aim of this study is to investigate the mutation spectrum and frequency of 9 cataract-associated genes in 19 Chinese families with...

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Bibliographic Details
Main Authors: Hai-Sen Sun, Teng Huang, Zhe-Xuan Liu, Yi-Tong Xu, Ya-Qi Wang, Ming-Cheng Wang, Shen-Rong Zhang, Jia-Lin Xu, Kai-Yi Zhu, Wen-Kai Huang, Xiu-Feng Huang, Jin Li
Format: Article
Language:English
Published: BMC 2025-02-01
Series:BMC Ophthalmology
Subjects:
Congenital cataract
Whole-exome sequencing
Variants
Online Access:https://doi.org/10.1186/s12886-025-03920-4

Internet

https://doi.org/10.1186/s12886-025-03920-4

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