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Article

GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.

The Laryngoscope - 1 Mar 2005

Frei Klemens, Ramsebner Reinhard, Lucas Trevor, Hamader Gertrude, Szuhai Károly, Weipoltshammer Klara, Baumgartner Wolf-Dieter, Wachtler Franz J, Kirschhofer Karin

Abstract excerpt

OBJECTIVES/HYPOTHESIS: Hearing impairment has a high prevalence affecting approximately 1 in 1000 newborn children. Alterations in the gap junction protein beta 2 (GJB2) and gap junction protein beta 6 (GJB6) are associated with nonsyndromic hearing impairment and should have a significant impact...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15744158
DOI: 10.1097/01.mlg.0000157855.47143.71

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15744158-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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