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Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Chenbhanich, Jirat; Hu, Yan; Hetts, Steven; Cooke, Daniel; Dowd, Christopher; Devine, Patrick; Russell, Bianca; Kang, Sung Hae L; Chang, Vivian Y; Abla, Adib A; Cornett, Patricia; Yeh, Iwei; Lee, Hane; Martinez-Agosto, Julian A; Frieden, Ilona J; Shieh, Joseph T.
Afiliación
  • Chenbhanich J; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, California, USA.
  • Hu Y; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.
  • Hetts S; Division of Neurointerventional Radiology, Department of Radiology and Biomedical Imaging, University of California, San Francisco, California, USA.
  • Cooke D; Division of Neurointerventional Radiology, Department of Radiology and Biomedical Imaging, University of California, San Francisco, California, USA.
  • Dowd C; Division of Neurointerventional Radiology, Department of Radiology and Biomedical Imaging, University of California, San Francisco, California, USA.
  • Devine P; Department of Pathology and Laboratory Medicine, University of California, San Francisco, California, USA.
  • Kang SHL; Department of Pediatrics, Division of Medical Genetics, University of California Los Angeles, Los Angeles, California, USA.
  • Chang VY; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.
  • Abla AA; Department of Pediatrics, Division of Pediatric Hematology Oncology, University of California Los Angeles, Los Angeles, California, USA.
  • Cornett P; Department of Neurological Surgery, University of California, San Francisco, California, USA.
  • Yeh I; Department of Hematology and Oncology, University of California, San Francisco, California, USA.
  • Lee H; Department of Pathology and Laboratory Medicine, University of California, San Francisco, California, USA.
  • Martinez-Agosto JA; Department of Dermatology, University of California, San Francisco, California, USA.
  • Frieden IJ; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.
  • Shieh JT; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.
Am J Med Genet A ; 185(5): 1430-1436, 2021 05.
Article en En | MEDLINE | ID: mdl-33683022
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aneurisma Intracraneal / Receptor beta de Factor de Crecimiento Derivado de Plaquetas / Trastornos del Crecimiento / Aneurisma Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Aneurisma Intracraneal / Receptor beta de Factor de Crecimiento Derivado de Plaquetas / Trastornos del Crecimiento / Aneurisma Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos