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Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.
Svojgr, Karel; Sumerauer, David; Puchmajerova, Alena; Vicha, Ales; Hrusak, Ondrej; Michalova, Kyra; Malis, Josef; Smisek, Petr; Kyncl, Martin; Novotna, Drahuse; Machackova, Eva; Jencik, Jan; Pycha, Karel; Vaculik, Miroslav; Kodet, Roman; Stary, Jan.
Afiliação
  • Svojgr K; Department of Pediatric Hematology and Oncology, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic. Electronic address: karel.svojgr@fnmotol.cz.
  • Sumerauer D; Department of Pediatric Hematology and Oncology, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Puchmajerova A; Department of Biology and Medical Genetics, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Vicha A; Department of Pediatric Hematology and Oncology, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Hrusak O; Department of Pediatric Hematology and Oncology, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Michalova K; Center of Oncocytogenetics, General Teaching Hospital, Prague, Czech Republic.
  • Malis J; Department of Pediatric Hematology and Oncology, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Smisek P; Department of Pediatric Hematology and Oncology, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Kyncl M; Department of Radiology, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Novotna D; Department of Biology and Medical Genetics, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Machackova E; Department of Epidemiology and Cancer Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
  • Jencik J; Czech Gene Bank, Prague, Czech Republic.
  • Pycha K; Department of Pediatric Surgery, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Vaculik M; Department of Neurosurgery, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Kodet R; Department of Pathology and Molecular Medicine, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
  • Stary J; Department of Pediatric Hematology and Oncology, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Eur J Med Genet ; 59(3): 152-7, 2016 Mar.
Article em En | MEDLINE | ID: mdl-26657402

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína BRCA2 / Anemia de Fanconi Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de publicação: Holanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína BRCA2 / Anemia de Fanconi Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de publicação: Holanda