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Article

A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family.

International ophthalmology - 1 Jan 2023

Zhang Xinyue, Liang Chen, Liu Man, Wang Zhaokun, Leng Xiangyou, Xie Shengyu, Tan Xiaolan, Yang Yuan, Liu Yunqiang

Abstract excerpt

PURPOSE: To investigate the potential genetic defects in a five-generation Chinese family with autosomal dominant congenital cataract (ADCC). METHODS: Whole exome sequencing was performed to search the variants in the candidate genes associated with congenital cataract. Sanger sequencing was used to validate the variants and examine their co-segregation in the patients and their relatives. The potential effect of...

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PMID: 35840783
DOI: 10.1007/s10792-022-02386-3

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