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Article

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

American journal of human genetics - 1 Mar 1993

Hoth C F, Milunsky A, Lipsky N, Sheffer R, Clarren S K, Baldwin C T

Abstract excerpt

Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Klein-Waardenburg syndrome (WS-III) is a disorder with many of the same characteristics as WS-I and includes musculoskeletal abnormalities. We have recently reported the identification and characterization of one of the...

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Identifiers

PMID: 8447316
PMCID: PMC1682157

Genes

PAX3

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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.

Related research

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Research trail→

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Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).PMID 8447316Read ↗

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

A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).Semantic proximity Read ↗

Two different PAX3 gene mutations causing Waardenburg syndrome type I.Semantic proximity Read ↗

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.Semantic proximity Read ↗

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.Semantic proximity Read ↗

Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?Semantic proximity Read ↗

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.Semantic proximity Read ↗

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.Semantic proximity Read ↗

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

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family.Semantic proximity Read ↗

Genotype-phenotype correlations in type 1 Waardenburg syndrome.Semantic proximity Read ↗

A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.Semantic proximity Read ↗

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