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Article

A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract.

The Tohoku journal of experimental medicine - 1 Feb 2018

Zhang Lusi, Liang Youling, Zhou Yedi, Zeng Huilan, Jia Songbai, Shi Jingming

Abstract excerpt

Congenital cataract is leading cause of visual impairment and blindness in children worldwide. Approximately one-third of congenital cataract cases are familial, whose genetic etiology can be distinguished by targeted exome sequencing. Here, a three-generation congenital cataract pedigree was recruited, and physical and ophthalmologic examinations were taken. Targeted exome sequencing of 139 cataract-related...

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Source

Identifiers

PMID: 29434075
DOI: 10.1620/tjem.244.105

Genes

GJA8

Variants

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A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract.PMID 29434075Read ↗

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