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Article

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.

American journal of medical genetics. Part A - 15 Sept 2003

Wollnik Bernd, Tukel Turgut, Uyguner Oya, Ghanbari Asadollah, Kayserili Hulya, Emiroglu Melike, Yuksel-Apak Memnune

Abstract excerpt

Type I Waardenburg syndrome (WS-I) is an auditory-pigmentary syndrome caused by heterozygous loss of function mutations in the PAX3 gene. Klein-Waardenburg syndrome (WS-III) is a very rare condition and represents an extreme presentation of WS-I, additionally associated with musculoskeletal abnormalities. We present an 18-months old Turkish child with typical Klein-Waardenburg syndrome (WS) including dystopia...

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Source

Identifiers

PMID: 12949970
DOI: 10.1002/ajmg.a.20260

Genes

PAX3

Variants

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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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