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Article

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

American journal of medical genetics - 28 Aug 1995

Baldwin C T, Hoth C F, Macina R A, Milunsky A

Abstract excerpt

Waardenburg syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary disturbances, and it represents the most common form of inherited deafness in infants. WS type I is characterized by the presence of dystopia canthorum, while individuals with WS type II have normally-located canthi. WS type III is similar to WS type I but is also...

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Source

Identifiers

PMID: 8533800
DOI: 10.1002/ajmg.1320580205

Genes

PAX3

Provenance

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→

Click a neighbor to travelStep 1 · 12 closest

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.PMID 8533800Read ↗

A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.Semantic proximity Read ↗

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.Semantic proximity Read ↗

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

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

Review and update of mutations causing Waardenburg syndrome.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 ↗

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).Semantic proximity Read ↗

Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?Semantic proximity Read ↗

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

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

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

A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.Semantic proximity Read ↗

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