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Article

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.

International journal of pediatric otorhinolaryngology - 1 Jan 2013

Gonçalves Ana Cláudia, Chora Joana, Matos Tiago D, Santos Ricardo, O'Neill Assunção, Escada Pedro, Fialho Graça, Caria Helena

Abstract excerpt

INTRODUCTION: Hearing loss is the most common sensory disability and is present in about 1.9 per 1000 infants at birth. The DFNB1 locus (13q11-q12) includes the genes GJB2, coding for connexin 26, and GJB6, encoding connexin 30. More than 100 mutations have been identified associated with autosomal dominant and recessive hearing loss in the GJB2 gene. OBJECTIVES: The aim of the present study was to identify the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23141775
DOI: 10.1016/j.ijporl.2012.10.002

Genes

GJB2
GJB6

Variants

Provenance

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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