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Article

Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness.

Ear and hearing - 1 Dec 2006

Norris Virginia W, Arnos Kathleen S, Hanks Wendy D, Xia Xia, Nance Walter E, Pandya Arti

Abstract excerpt

OBJECTIVE: Deafness is the most common neurosensory defect at birth, and GJB2 (connexin 26) mutations are the most frequent genetic cause of hearing loss in many populations. The hearing loss caused by GJB2 mutations is usually congenital in onset and moderate to profound in degree. Considerable phenotypic variation has been noted however, including two anecdotal cases of apparent non penetrance at birth. The...

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Source

Identifiers

PMID: 17086082
DOI: 10.1097/01.aud.0000240492.78561.d3

Genes

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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