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Article

Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability.

American journal of medical genetics. Part A - 15 Apr 2008

Tamayo Marta L, Gelvez Nancy, Rodriguez Marcela, Florez Silvia, Varon Clara, Medina David, Bernal Jaime E

Abstract excerpt

A screening program to detect Waardenburg syndrome (WS) conducted between 2002 and 2005, among 1,763 deaf individuals throughout Columbia identified 95 affected individuals belonging to 95 families, giving a frequency of 5.38% of WS among the institutionalized deaf population. We confirmed the clinical diagnosis of WS in the 95 propositi and, through the family evaluation, we also identified 45...

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Source

Identifiers

PMID: 18241065
DOI: 10.1002/ajmg.a.32189

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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