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Article

Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis.

The Journal of laryngology and otology - 1 Jan 2004

Salvinelli Fabrizio, Casale Manuele, D'Ascanio Luca, Firrisi Luca, Greco Fabio, Baldi Alfonso

Abstract excerpt

35delG is the most common mutation in the Connexin-26 gene, representing a major cause of autosomal recessive hearing loss. The aim of this study was to evaluate the relationship between the audiological phenotype and the 35delG mutation in 64 Sicilians with non-syndromic deafness. Pure-tone audi...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14979964
DOI: 10.1258/002221504322731547

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14979964-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Hearing loss associated with 35delG mutation in Connexin-26 (GJB2) gene: audiogram analysis.PMID 14979964Read ↗

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A genotype-phenotype correlation for GJB2 (connexin 26) deafness.Semantic proximity Read ↗

Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.Semantic proximity Read ↗

Audiometric evaluation of carriers of the connexin 26 mutation 35delG.Semantic proximity Read ↗

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