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Article

Correlation between GJB2 mutations and audiological deficits: personal experience.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Apr 2009

Picciotti Pasqualina M, Pietrobono Roberta, Neri Giovanni, Paludetti Gaetano, Fetoni Anna Rita, Cianfrone Francesca, Pomponi Maria Grazia

Abstract excerpt

Mutations in GJB2 gene are the most common cause of genetic deafness. More than 100 mutations have been described. The aim of this work is to describe the personal experience in genetic hearing loss, investigating the audiological and genetical characteristics of Cx26 deafness and correlating gen...

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Source

Identifiers

PMID: 18668259
DOI: 10.1007/s00405-008-0775-9

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18668259-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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