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Article

First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness.

Prenatal diagnosis - 1 Aug 2004

Coviello Domenico A, Brambati Bruno, Tului Lucia, Percesepe Antonio, Sironi Francesca, Sahai Achal, Bertorelli Roberto, Forabosco Antonino

Abstract excerpt

OBJECTIVE: This study evaluates the prevalence of 35delG GJB2 mutation, the most common genetic mutation causing prelingual deafness, and its screening feasibility and acceptability in pregnant women undergoing first-trimester CVS for chromosomal abnormality investigation. METHODS: Samples were taken from 5786 pregnant women who requested CVS for chromosomal analysis. The samples were split into two aliquots for...

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Source

Identifiers

PMID: 15305352
DOI: 10.1002/pd.954

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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