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Article

High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene.

International journal of pediatric otorhinolaryngology - 1 Sept 2010

Mahdieh Nejat, Bagherian Hamideh, Shirkavand Atefeh, Sharafi Maryam, Zeinali Sirous

Abstract excerpt

Hearing loss is the most common sensory defect in the world. The genetic basis of this condition is very complex. Molecular variations in GJB2 gene are the common cause of hearing impairment in Caucasians. One expects that affected members of a family with same mutation have similar phenotype. He...

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Source

Identifiers

PMID: 20609484
DOI: 10.1016/j.ijporl.2010.06.005

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20609484-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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