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Article

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.

Frontiers in bioscience (Landmark edition) - 1 Jun 2011

del Castillo Francisco J, del Castillo Ignacio

Abstract excerpt

Inherited hearing impairment is a frequent and highly heterogeneous condition. Among the different subtypes of autosomal recessive non-syndromic hearing impairment, DFNB1 is remarkable for its high frequency in most populations. It is caused by mutations in the coding region or splice-sites of the GJB2 gene, or by mutations affecting regulatory sequences that are essential for the expression of this gene. GJB2...

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Source

Identifiers

PMID: 21622233
DOI: 10.2741/3910

Genes

GJB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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