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Article

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

Human mutation - 1 Jan 1998

Hol F A, Geurds M P, Cremers C W, Hamel B C, Mariman E C

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Source

Identifiers

PMID: 9452070
DOI: 10.1002/humu.1380110149

Genes

PAX3

Variants

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

Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).PMID 9452070Read ↗

Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.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 ↗

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

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 ↗

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

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

Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.Semantic proximity Read ↗

The expression and function of PAX3 in development and disease.Semantic proximity Read ↗

A Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family.Semantic proximity Read ↗

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