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Article

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.

European journal of ophthalmology - 1 Sept 2021

Xu Li Juan, Lv Zhi Gang, Liu Ying, Zhang Xiang Xiang, Cui Yu Xin, Li Xiao Chun, Zhu Yi Jun, He Jie

Abstract excerpt

PURPOSE: This study aimed to examine pathogenic mutation within one Chinese family of five-generations suffering from autosomal dominant cataract. METHODS: Next-generation sequencing and Sanger sequencing were used to find the pathogenic variants. RESULTS: A rare mutation, c.563G > A, in CRYBB2 gene was found in the proband that showed symptom of non-syndromic congenital autosomal dominant cataract. This mutation...

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PMID: 32498547
DOI: 10.1177/1120672120926450

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