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Article

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

Human genetics - 1 Jan 2000

Rabionet R, Zelante L, López-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbonés M L, Gasparini P, Estivill X

Abstract excerpt

Mutations in the GJB2 gene have been identified in many patients with childhood deafness, 35delG being the most common mutation in Caucasoid populations. We have analyzed a total of 576 families/unrelated patients with recessive or sporadic deafness from Italy and Spain, 193 of them being referre...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10982180
DOI: 10.1007/s004390051007

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10982180-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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