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Article

Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.

Human genetics - 1 Sept 2010

Yang Jiann-Jou, Wang Wen-Hung, Lin Yen-Chun, Weng Hsu-Huei, Yang Jen-Tsung, Hwang Chung-Feng, Wu Che-Min, Li Shuan-Yow

Abstract excerpt

The crucial role of gap junctions, which are composed of connexin (CX) protein, in auditory functions has been confirmed by numerous studies. In this study, we investigate the prevalence and phenotype/genotype correlation of connexin (CX) gene family variants in a cohort of children with nonsyndromic hearing loss (HL). A total of 253 unrelated children with nonsyndromic HL were screened for the presence of...

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Source

Identifiers

PMID: 20593197
DOI: 10.1007/s00439-010-0856-x

Genes

GJB2
GJB3
GJB4
GJC3

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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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