Article
PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.
Human molecular genetics - 15 May 2017
Arts Florence A, Sciot Raf, Brichard Bénédicte, Renard Marleen, de Rocca Serra Audrey, Dachy Guillaume, Noël Laura A, Velghe Amélie I, Galant Christine, Debiec-Rychter Maria, Van Damme An, Vikkula Miikka, Helaers Raphaël, Limaye Nisha, Poirel Hélène A, Demoulin Jean-Baptiste
Abstract excerpt
Infantile myofibromatosis is one of the most prevalent soft tissue tumors of infancy and childhood. Multifocal nodules with visceral lesions are associated with a poor prognosis. A few familial cases have been linked to mutations in various genes including PDGFRB. In this study, we sequenced PDGFRB, which encodes a receptor tyrosine kinase, in 16 cases of myofibromatosis or solitary myofibroma. Mutations in the...
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