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Article

Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?

Clinical genetics - 1 Jun 2011

Vilain R E, Dudding T, Braye S G, Groombridge C, Meldrum C, Spigelman A D, Ackland S, Ashman L, Scott R J

Abstract excerpt

Familial gastrointestinal stromal tumours (GISTs) are rare but otherwise well-characterized tumour syndromes, most commonly occurring on a background of germline-activating mutations in the tyrosine kinase receptor c-KIT. The associated clinical spectrum reflects the constitutive activation of this gene product across a number of cell lines, generating gain-of-function phenotypes in interstitial cells of Cajal...

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Source

Identifiers

PMID: 20636395
DOI: 10.1111/j.1399-0004.2010.01489.x

Genes

KIT
MITF
SNAI2

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.

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