Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation

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Using exome analysis, we identified a novel overgrowth syndrome arising from a mutation in PDGFRB, which plays a critical role in growth and differentiation. This entity is characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, white matter lesions, and neurologic deterioration.

Original languageEnglish
Pages (from-to)483-486
Number of pages4
JournalJournal of Pediatrics
Issue number2
Publication statusPublished - 2015 Feb 1


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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