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Article

Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.

American journal of human genetics - 1 Oct 1994

Farrer L A, Arnos K S, Asher J H, Baldwin C T, Diehl S R, Friedman T B, Greenberg J, Grundfast K M, Hoth C, Lalwani A K

Abstract excerpt

Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking...

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Identifiers

PMID: 7942851
PMCID: PMC1918288

Genes

PAX3

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.PMID 7942851Read ↗

Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers.Semantic proximity Read ↗

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Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.Semantic proximity Read ↗

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.Semantic proximity Read ↗

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?Semantic proximity Read ↗

Revisiting the W-Index and Waardenburg Syndrome: A Retrospective Review of Waardenburg Syndrome Diagnoses at a Single Site Hearing Loss Clinic and the Sensitivity, Specificity, and Genotype-Phenotype Correlations of an Elevated W-Index.Semantic proximity Read ↗

Major-locus contributions to variability of the craniofacial feature dystopia canthorum in Waardenburg syndrome.Semantic proximity Read ↗

Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.Semantic proximity Read ↗

Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type I.Semantic proximity Read ↗

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.Semantic proximity Read ↗

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Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.Semantic proximity Read ↗

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