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Article

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

Journal of human genetics - 1 Jan 2005

Oguchi Tomohiro, Ohtsuka Akihiro, Hashimoto Shigenari, Oshima Aki, Abe Satoko, Kobayashi Yumiko, Nagai Kyoko, Matsunaga Tatsuo, Iwasaki Satoshi, Nakagawa Takashi, Usami Shin-Ichi

Abstract excerpt

Mutations in the GJB2 (connexin 26, Cx26) gene are the major cause of nonsyndromic hearing impairment in many populations. Genetic testing offers opportunities to determine the cause of deafness and predict the course of hearing, enabling the prognostication of language development. In the current study, we compared severity of hearing impairment in 60 patients associated with biallelic GJB2 mutations and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15700112
DOI: 10.1007/s10038-004-0223-7

Genes

GJB2

Provenance

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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Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.PMID 15700112Read ↗

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