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A case of splenomegaly in CBL syndrome.
Coe, Rachel R; McKinnon, Margaret L; Tarailo-Graovac, Maja; Ross, Colin J; Wasserman, Wyeth W; Friedman, Jan M; Rogers, Paul C; van Karnebeek, Clara D M.
Affiliation
  • Coe RR; Department of Medical Genetics, University of British Columbia, Vancouver, Canada; British Columbia Children's Hospital Research Institute, Vancouver, Canada.
  • McKinnon ML; Department of Medical Genetics, University of British Columbia, Vancouver, Canada; British Columbia Children's Hospital Research Institute, Vancouver, Canada.
  • Tarailo-Graovac M; Department of Medical Genetics, University of British Columbia, Vancouver, Canada; British Columbia Children's Hospital Research Institute, Vancouver, Canada; Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeav
  • Ross CJ; Department of Medical Genetics, University of British Columbia, Vancouver, Canada; British Columbia Children's Hospital Research Institute, Vancouver, Canada; Department of Pediatrics, University of British Columbia, Vancouver, Canada.
  • Wasserman WW; Department of Medical Genetics, University of British Columbia, Vancouver, Canada; British Columbia Children's Hospital Research Institute, Vancouver, Canada; Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeav
  • Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, Canada; British Columbia Children's Hospital Research Institute, Vancouver, Canada.
  • Rogers PC; British Columbia Children's Hospital Research Institute, Vancouver, Canada; Department of Pediatrics, University of British Columbia, Vancouver, Canada; Division of Pediatric Hematology, Oncology, and Bone Marrow Transplantation, B.C. Children's Hospital and University of British Columbia, Vancouver
  • van Karnebeek CDM; British Columbia Children's Hospital Research Institute, Vancouver, Canada; Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), Vancouver, Canada; Department of Pediatrics, Uni
Eur J Med Genet ; 60(7): 374-379, 2017 Jul.
Article in En | MEDLINE | ID: mdl-28414188

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Splenomegaly / Granuloma, Giant Cell / Germ-Line Mutation / Proto-Oncogene Proteins c-cbl / Noonan Syndrome Type of study: Diagnostic_studies / Prognostic_studies / Qualitative_research Limits: Child / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Canadá Country of publication: Países Bajos

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Splenomegaly / Granuloma, Giant Cell / Germ-Line Mutation / Proto-Oncogene Proteins c-cbl / Noonan Syndrome Type of study: Diagnostic_studies / Prognostic_studies / Qualitative_research Limits: Child / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Canadá Country of publication: Países Bajos