title: Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.
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.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Toshiki
authors.initials: T
authors.lastname: Takenouchi
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Yu
authors.initials: Y
authors.lastname: Yamaguchi
authors.affiliation: Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Tanikawa
authors.affiliation: Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.affiliation: Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Okano
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address: kkosaki@z3.keio.jp.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D013577:Syndrome
chemical_list: D020797:Receptor, Platelet-Derived Growth Factor beta