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Article

[Genetic aspects of congenital sensorineural hearing loss].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Aug 2012

Blanchard M, Thierry B, Marlin S, Denoyelle F

Abstract excerpt

Hearing loss is the most common sensory disability with an incidence of one over 1000 newborns. Hearing loss may be caused by environmental and genetic factors; inherited causes are assumed in two thirds of cases. There is a great clinical and genetic heterogenicity. All inheritance modes have been described. Mutations in the GJB2 gene, which encodes connexin 26, are mainly responsible for sensorineural deafness...

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Topics

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Share to Connexin 26
Share to Connexins
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Infant, Newborn

Share to Membrane Transport Proteins

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Source

Identifiers

PMID: 22770557
DOI: 10.1016/j.arcped.2012.05.015

Genes

CFTR
GJB2

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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