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Multiple Gastrointestinal Stromal and Other Tumors Caused by Platelet-Derived Growth Factor Receptor α Gene Mutations: A Case Associated with a Germline V561D Defect

14 Jun 2007

Abstract excerpt

CONTEXT: Gastrointestinal stromal tumors (GISTs) may be caused by somatic or germline mutations of the KIT and PDGFRA genes, but most GISTs associated with neuroendocrine tumors (NETs) are not, suggesting that other molecular pathways are implicated in their pathogenesis. OBJECTIVE: In the course of investigating NETs and GIST genetics, we encountered a patient who had a unique combination of multiple fibrous...

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PMID: 17566086
DOI: 10.1210/jc.2007-0894

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