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Article

PDGFRA-mutant syndrome.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 Jul 2015

Ricci Riccardo, Martini Maurizio, Cenci Tonia, Carbone Arnaldo, Lanza Paola, Biondi Alberto, Rindi Guido, Cassano Alessandra, Larghi Alberto, Persiani Roberto, Larocca Luigi M

Abstract excerpt

Germline PDGFRA mutations cause multiple heterogeneous gastrointestinal mesenchymal tumors. In its familial form this disease, which was formerly termed intestinal neurofibromatosis/neurofibromatosis 3b (INF/NF3b), has been included among familial gastrointestinal stromal tumors (GISTs) because of its genotype, described when GIST was the only known PDGFRA-mutant gastrointestinal tumor. Shortly afterwards,...

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Identifiers

PMID: 25975287
DOI: 10.1038/modpathol.2015.56

Genes

PDGFRA
KIT

Variants

Provenance

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