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Article

Two different PAX3 gene mutations causing Waardenburg syndrome type I.

Molecular and cellular probes - 1 Jun 1996

Wildhardt G, Winterpacht A, Hilbert K, Menger H, Zabel B

Abstract excerpt

Waardenburg syndrome (WS) is a form of autosomal dominant inherited deafness combined with specific congenital anomalies. WS types I and III are correlated with mutations in the PAX3 gene on chromosome 2q37. In this report we describe two mutations in the human PAX3 gene causing WS type I in two families. One mutation is an insertion in the paired box domain resulting in a protein termination within the paired...

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Source

Identifiers

PMID: 8799378
DOI: 10.1006/mcpr.1996.0032

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

Two different PAX3 gene mutations causing Waardenburg syndrome type I.PMID 8799378Read ↗

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

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 ↗

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

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 ↗

A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.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 novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.Semantic proximity Read ↗

Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).Semantic proximity Read ↗

A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1.Semantic proximity Read ↗

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