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Article

Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

Archives of otolaryngology--head & neck surgery - 1 Aug 2001

Marlin S, Garabédian E N, Roger G, Moatti L, Matha N, Lewin P, Petit C, Denoyelle F

Abstract excerpt

OBJECTIVE: To evaluate difficulties encountered in genetic counseling in deaf children carrying connexin 26 gene (CX26 or GJB2) mutations. DESIGN: Prospective study. SETTING: Outpatients, tertiary referral center. PATIENTS: Ninety-six unrelated deaf children in whom CX26 mutations had been detected consecutively. Children were recruited to a center for genetic counseling for deaf children, and all had congenital...

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Source

Identifiers

PMID: 11493200
DOI: 10.1001/archotol.127.8.927

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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Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.PMID 11493200Read ↗

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Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.Semantic proximity Read ↗

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