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Article

Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

American journal of medical genetics - 6 Nov 2000

Lerer I, Sagi M, Malamud E, Levi H, Raas-Rothschild A, Abeliovich D

Abstract excerpt

Twenty-seven unrelated Jewish Ashkenazi patients with nonsyndromic prelingual deafness (NSD) were analyzed for mutations in the coding sequence of the connexin 26 (Cx26) gene. Biallelic mutations were identified in 19 of the 27 patients (70.4%); 12 were homozygous for the mutation 167delT, 2 were...

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Identifiers

PMID: 11074495
DOI: 10.1002/1096-8628(20001106)95:1<53::aid-ajmg11>3.0.co;2-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11074495-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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