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Article

The mutational spectrum in Waardenburg syndrome.

Human molecular genetics - 1 Nov 1995

Tassabehji M, Newton V E, Liu X Z, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W

Abstract excerpt

One hundred and thirty-four families or individuals with auditory-pigmentary syndromes such as Waardenburg syndrome (WS) or probable neurocristopathies were screened for mutations in the PAX3 and MITF genes. PAX3 mutations were found in 20/25 families with definite Type 1 WS and 1/2 with Type 3 WS, but in none of 23 with definite Type 2 WS or 36 with other neurocristopathies. The PAX3 mutations included...

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Source

Identifiers

PMID: 8589691
DOI: 10.1093/hmg/4.11.2131

Genes

MITF
PAX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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[Clinical and genetic characteristics of Chinese patients with Waardenburg syndrome].Semantic proximity Read ↗

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

Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.Semantic proximity Read ↗

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

Review and update of mutations causing Waardenburg syndrome.Semantic proximity Read ↗

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Semantic proximity Read ↗

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