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- W2936787298 abstract "The spectrum of clinical consequences of variants in the Platelet derived growth factor receptor beta (PDGFRB) gene is wide. Missense variants leading to variable loss of signal transduction in vitro have been reported in the idiopathic basal ganglia calcification (IBGC) syndrome Type 4. In contrast, gain-of-function variants have been reported in infantile myofibromatosis, Penttinen syndrome, and Kosaki overgrowth syndrome. Here, we report a patient harboring a novel postzygotic variant in PDGFRB (c.1682_1684del, p.[Arg561_Tyr562delinsHis]) and presenting severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis. This observation expands the phenotype associated with PDGFRB variants and illustrates the wide clinical spectrum linked to dysregulation of PDGFRB." @default.
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- W2936787298 date "2019-04-19" @default.
- W2936787298 modified "2023-09-26" @default.
- W2936787298 title "A novel de novo <i>PDGFRB</i> variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis" @default.
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- W2936787298 doi "https://doi.org/10.1002/ajmg.a.61151" @default.
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