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Article

Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.

Gastroenterology - 1 Dec 2006

de Raedt Thomas, Cools Jan, Debiec-Rychter Maria, Brems Hilde, Mentens Nicole, Sciot Raf, Himpens Jacques, de Wever Ivo, Schöffski Patrick, Marynen Peter, Legius Eric

Abstract excerpt

BACKGROUND & AIMS: Intestinal neurofibromatosis (Online Mendelian inheritance in Man database number 162220) is an alternate form of neurofibromatosis. Patients present with neurofibromas limited to the intestine in the absence of any other typical features of NF1 and NF2. At present, the molecular basis of intestinal neurofibromatosis remains elusive. The aim of the present study was to find the gene responsible...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17087943
DOI: 10.1053/j.gastro.2006.07.002

Genes

PDGFRA
KIT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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