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Article

High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.

American journal of medical genetics. Part A - 1 Sept 2005

Alvarez Araceli, del Castillo Ignacio, Villamar Manuela, Aguirre Luis A, González-Neira Anna, López-Nevot Alicia, Moreno-Pelayo Miguel A, Moreno Felipe

Abstract excerpt

Molecular testing for mutations in the gene encoding connexin-26 (GJB2) at the DFNB1 locus has become the standard of care for genetic diagnosis and counseling of autosomal recessive non-syndromic hearing impairment (ARNSHI). The spectrum of mutations in GJB2 varies considerably among the populat...

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Source

Identifiers

PMID: 16088916
DOI: 10.1002/ajmg.a.30884

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16088916-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.PMID 16088916Read ↗

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