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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Wenger, Tara L; Bly, Randall A; Wu, Natalie; Albert, Catherine M; Park, Julie; Shieh, Joseph; Chenbhanich, Jirat; Heike, Carrie L; Adam, Margaret P; Chang, Irene; Sun, Angela; Miller, Danny E; Beck, Anita E; Gupta, Deepti; Boos, Markus D; Zackai, Elaine H; Everman, David; Ganapathi, Shireen; Wilson, Meredith; Christodoulou, John; Zarate, Yuri A; Curry, Cynthia; Li, Dong; Guimier, Anne; Amiel, Jeanne; Hakonarson, Hakon; Webster, Richard; Bhoj, Elizabeth J; Perkins, Jonathan A; Dahl, John P; Dobyns, William B.
Afiliación
  • Wenger TL; Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • Bly RA; Department of Otolaryngology, Seattle Children's Hospital, Seattle, Washington, USA.
  • Wu N; Division of Hematology/Oncology, Seattle Children's Hospital, Seattle, Washington, USA.
  • Albert CM; Division of Hematology/Oncology, Seattle Children's Hospital, Seattle, Washington, USA.
  • Park J; Division of Hematology/Oncology, Seattle Children's Hospital, Seattle, Washington, USA.
  • Shieh J; Division of Medical Genetics, Benioff Children's Hospital and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
  • Chenbhanich J; Division of Medical Genetics, Benioff Children's Hospital and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
  • Heike CL; Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
  • Adam MP; Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • Chang I; Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • Sun A; Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • Miller DE; Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • Beck AE; Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.
  • Gupta D; Division of Dermatology, Seattle Children's Hospital, Seattle, Washington, USA.
  • Boos MD; Division of Dermatology, Seattle Children's Hospital, Seattle, Washington, USA.
  • Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Everman D; Greenwood Genetics Center, Greenville, South Carolina, USA.
  • Ganapathi S; Division of Hematology/Oncology, Seattle Children's Hospital, Seattle, Washington, USA.
  • Wilson M; Department of Clinical Genetics, Sydney Children's Hospitals Network-Westmead, University of Sydney, Sydney, New South Wales, Australia.
  • Christodoulou J; Division of Genetic Medicine, University of Sydney, Sydney, New South Wales, Australia.
  • Zarate YA; Murdoch Children's Research Institute, Parkville, Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria, Australia.
  • Curry C; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
  • Li D; Division of Medical Genetics, Benioff Children's Hospital and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
  • Guimier A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Amiel J; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Hakonarson H; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Webster R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Bhoj EJ; Department of Neurology, Sydney Children's Hospital Network, Westmead, New South Wales, Australia.
  • Perkins JA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Dahl JP; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Dobyns WB; Department of Otolaryngology, Seattle Children's Hospital, Seattle, Washington, USA.
Am J Med Genet A ; 182(7): 1576-1591, 2020 07.
Article en En | MEDLINE | ID: mdl-32500973
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Miofibromatosis / Receptor beta de Factor de Crecimiento Derivado de Plaquetas / Leucoencefalopatías / Mesilato de Imatinib Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Miofibromatosis / Receptor beta de Factor de Crecimiento Derivado de Plaquetas / Leucoencefalopatías / Mesilato de Imatinib Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article