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Article

Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.

Human mutation - 1 Jan 1996

Asher J H, Sommer A, Morell R, Friedman T B

Abstract excerpt

Craniofacial-deafness-hand syndrome (MIM 122880) is inherited as an autosomal dominant mutation characterized by the absence or hypoplasia of the nasal bones, profound sensorineural deafness, a small and short nose with slitlike nares, hypertelorism, short palpebral fissures, and limited movement at the wrist and ulnar deviations of the fingers. In a family of three affected individuals with this syndrome, a...

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Source

Identifiers

PMID: 8664898
DOI: 10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.0.CO;2-T

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→

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Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.PMID 8664898Read ↗

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

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

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