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- W2960515099 abstract "Abstract Heterozygous activating mutations in platelet‐derived growth factor receptor B ( PDGFRB ) have been recently identified as a cause of autosomal‐dominant infantile myofibromatosis. We describe a 36‐year‐old man with PDGFRB c.1681C>T (p.R561C) mutation. Upon progressive disease, the patient received treatment with imatinib and showed a remarkable response with remission of multiple lesions after 12 months. This is the first report of an adult patient with PDGFRB c.1681C>T mutation treated with imatinib." @default.
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- W2960515099 date "2019-07-10" @default.
- W2960515099 modified "2023-10-16" @default.
- W2960515099 title "<i>PDGRFB</i> mutation‐associated myofibromatosis: Response to targeted therapy with imatinib" @default.
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- W2960515099 doi "https://doi.org/10.1002/ajmg.a.61283" @default.
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