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Article

Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation.

Prenatal diagnosis - 1 Jan 2001

Antoniadi T, Pampanos A, Petersen M B

Abstract excerpt

Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 (DFNB1 locus) have been shown as a major contributor to prelingual, non-syndromic, autosomal recessive deafness in Caucasian populations. One specific mutation, 35delG, has accounted for the majority of the mutations detected in the GJB2 gene and is one of the most frequent disease mutations identified to date. We have...

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Source

Identifiers

PMID: 11180233
DOI: 10.1002/1097-0223(200101)21:1<10::aid-pd968>3.0.co;2-h

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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