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Article

A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.

Molecular vision - 11 Aug 2010

Hu Shanshan, Wang Binbin, Zhou Zhou, Zhou Guangkai, Wang Jing, Ma Xu, Qi Yanhua

Abstract excerpt

PURPOSE: To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC). METHODS: All individuals in the study underwent a full clinical examination and the details of history were collected . Genomic DNA extracted from peripheral blood was amplified by polymerase chain reaction (PCR) method and the exons of all...

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Source

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Identifiers

PMID: 20806042
PMCID: PMC2927419

Genes

GJA8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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