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Article

New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.

Genetic testing and molecular biomarkers - 1 Dec 2014

Stanghellini Ilaria, Genovese Elisabetta, Palma Silvia, Ravani Anna, Falcinelli Cristina, Guarnaccia Maria Consolatrice, Percesepe Antonio

Abstract excerpt

AIM: The aim of the study is to report the new and rare GJB2 variants identified in individuals with nonsyndromic sensorineural hearing impairment (HI) in a retrospective study based on 498 patients referred to the Otolaryngology and Medical Genetics Units of the Modena University Hospital, Italy, with the purpose of building new genotype/auditory phenotype correlations for the GJB2 gene. RESULTS: A total of...

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Source

Identifiers

PMID: 25401782
DOI: 10.1089/gtmb.2014.0185

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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