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Article

Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract.

DNA and cell biology - 1 Mar 2016

Li Bin, Liu Yuying, Liu Yaning, Guo Hui, Hu Zhengmao, Xia Kun, Jin Xuemin

Abstract excerpt

The congenital cataract has been a clinically important cause of impaired vision development, making up about 10% of the cases of childhood blindness. Mutations of more than 40 genes have been identified causing congenital cataract with Mendelian inheritance, which indicated that it has an extremely high genetic heterogeneity. In this study, we recruited a large congenital cataract family and identified a...

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Identifiers

PMID: 26683566
DOI: 10.1089/dna.2015.3125

Genes

GJA3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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