Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.

Takenouchi, Toshiki; Yamaguchi, Yu; Tanikawa, Akiko; Kosaki, Rika; Okano, Hideyuki; Kosaki, Kenjiro

Takenouchi, Toshiki; Yamaguchi, Yu; Tanikawa, Akiko; Kosaki, Rika; Okano, Hideyuki; Kosaki, Kenjiro.

Afiliación

Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Yamaguchi Y; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Tanikawa A; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
Kosaki R; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Okano H; Department of Physiology, Keio University School of Medicine, Tokyo, Japan.
Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address: kkosaki@z3.keio.jp.

J Pediatr ; 166(2): 483-6, 2015 Feb.

Article en En | MEDLINE | ID: mdl-25454926

Asunto(s)

Trastornos del Crecimiento/genética; Mutación; Receptor beta de Factor de Crecimiento Derivado de Plaquetas/genética; Niño; Preescolar; Femenino; Humanos; Linaje; Fenotipo; Síndrome

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Receptor beta de Factor de Crecimiento Derivado de Plaquetas / Trastornos del Crecimiento / Mutación Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans Idioma: En Revista: J Pediatr Año: 2015 Tipo del documento: Article País de afiliación: Japón

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