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Article

First report of prenatal diagnosis of genetic congenital deafness in a routine prenatal genetic test.

Prenatal diagnosis - 30 Dec 2003

Santoro M L, Mobili L, Mesoraca A, Giorlandino C

Abstract excerpt

OBJECTIVE: We aimed to screen for connexin26 gene (GJB2) mutations associated with autosomal recessive non-syndromic neurosensory deafness (NSRD) in a general risk population. METHODS: Screening for the most common connexin26 gene mutations was offered to all women undergoing a second-trimester a...

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Source

Identifiers

PMID: 14691997
DOI: 10.1002/pd.760

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14691997-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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First report of prenatal diagnosis of genetic congenital deafness in a routine prenatal genetic test.PMID 14691997Read ↗

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