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Article

A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations.

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 Aug 2015

Martines Francesco, Salvago Pietro, Bartolotta Caterina, Cocuzza Salvatore, Fabiano Carmelo, Ferrara Sergio, La Mattina Eleonora, Mucia Marianna, Sammarco Pietro, Sireci Federico, Martines Enrico

Abstract excerpt

The aim of this work was to study the genotype distribution of Sicilian patients with biallelic GJB2 mutations; to correlate genotype classes and/or specific mutations of GJB2 gene (35delG-non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenced in 73 SNHL subjects; 35delG (90.36 % of cases) and IVS1+1 (13.69 %) were the most common mutations found in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24627074
DOI: 10.1007/s00405-014-2970-1

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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