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Article

[Non-invasive screening for GJB2 mutations in buccal smears for the diagnosis of inherited hearing impairment].

Laryngo- rhino- otologie - 1 Jun 2003

Schade G, Kothe C, Ruge G, Hess M, Meyer C G

Abstract excerpt

BACKGROUND: Approximately 1 out of 1000 children is affected by severe or profound hearing impairment at birth. In the last years it has been shown that more than 50 % of inherited prelingual, sensorineural hearing impairment may be attributed to genetic defects. Most commonly, the GJB2 gene (chromosome 13q11) that encodes connexin 26 (Cx26) is affected. Cx26 is crucial for the formation of gap junctions which...

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Identifiers

PMID: 12851846
DOI: 10.1055/s-2003-40538

Genes

GJB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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