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Article

Reporting the presence of three different diseases causing GJB2 mutations in a consanguineous deaf family.

International journal of audiology - 1 Feb 2014

Davoudi-Dehaghani Elham, Fallah Mohammad-Sadegh, Shirzad Tina, Tavakkoly-Bazzaz Javad, Bagherian Hamideh, Zeinali Sirous

Abstract excerpt

OBJECTIVE: This paper reports a consanguineous deaf family with three different mutations in the GJB2 gene. DESIGN: Four members of an Iranian deaf family were recruited in this study. The GJB2 coding region and exon-intron boundaries were investigated using direct sequencing. STUDY SAMPLE: The proposita was a 12-year-old girl with congenital non-syndromic hearing loss. She was born to consanguineous parents. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24224790
DOI: 10.3109/14992027.2013.850748

Genes

GJB2

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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