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Article

Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype.

Human pathology - 1 Jun 2018

Manley Paul N, Abu-Abed Suzy, Kirsch Richard, Hawrysh Andrea, Perrier Nicole, Feilotter Harriet, Pollett Aaron, Riddell Robert H, Hookey Lawrence, Walia Jagdeep S

Abstract excerpt

Germline activating platelet-derived growth factor receptor alpha (PDGFRA) mutations have been described in four families. All the index patients have presented with multiple mesenchymal tumors of the gastrointestinal tract. We identified a fifth family with four first-degree relatives that harbor a PDGFRA exon 18 (D846V) germline mutation. The affected kindred have a unique phenotype including coarse facies and...

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Identifiers

PMID: 29486293
DOI: 10.1016/j.humpath.2018.02.014

Genes

PDGFRA

Variants

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