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Article

The value of MLPA in Waardenburg syndrome.

Genetic testing - 1 Jan 2007

Milunsky J M, Maher T A, Ito M, Milunsky A

Abstract excerpt

Waardenburg syndrome (WS) is an autosomal-dominant neurocristopathy characterized by sensorineural hearing loss, pigmentary abnormalities of the iris, hair, and skin, and is responsible for about 3% of congenital hearing loss. Point mutations in PAX3 have been identified in more than 90% of affected individuals with WS Type 1/WS Type 3. MITF point mutations have been identified in 10-15% of individuals affected...

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Source

Identifiers

PMID: 17627390
DOI: 10.1089/gte.2006.0531

Genes

PAX3
MITF

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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The value of MLPA in Waardenburg syndrome.PMID 17627390Read ↗

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The mutational spectrum in Waardenburg syndrome.Semantic proximity Read ↗

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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 ↗

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation SequencingSemantic proximity Read ↗

Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.Semantic proximity Read ↗

Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.Semantic proximity Read ↗

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

Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.Semantic proximity Read ↗

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.Semantic proximity Read ↗

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