Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

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
Volume166
Issue number2
DOIs
Publication statusPublished - 2015 Feb 1

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Platelet-Derived Growth Factor beta Receptor
Exome
Nervous System
Phenotype
Skin
Mutation
Growth
White Matter

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation. / Takenouchi, Toshiki; Yamaguchi, Yu; Tanikawa, Akiko; Kosaki, Rika; Okano, Hideyuki; Kosaki, Kenjiro.

In: Journal of Pediatrics, Vol. 166, No. 2, 01.02.2015, p. 483-486.

Research output: Contribution to journalArticle

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