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Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndrome.
Pahl, Lisa; Beier, Rita; von Neuhoff, Nils; Auber, Bernd; Höfs, Michaela; Prott, Eva-Christina; Schlegelberger, Brigitte; Reinhardt, Dirk; Steinemann, Doris.
Afiliação
  • Pahl L; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
  • Beier R; Pediatric Hematology and Oncology, Department for Pediatrics III, University Hospital of Essen, Essen, Germany.
  • von Neuhoff N; Pediatric Hematology and Oncology, Department for Pediatrics III, University Hospital of Essen, Essen, Germany.
  • Auber B; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
  • Höfs M; Pediatric Hematology and Oncology, Department for Pediatrics III, University Hospital of Essen, Essen, Germany.
  • Prott EC; Practice for Human Genetics, Wuppertal, Germany.
  • Schlegelberger B; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
  • Reinhardt D; Pediatric Hematology and Oncology, Department for Pediatrics III, University Hospital of Essen, Essen, Germany.
  • Steinemann D; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Pediatr Blood Cancer ; 65(10): e27254, 2018 10.
Article em En | MEDLINE | ID: mdl-29893455

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína Supressora de Tumor p53 / Síndrome de Li-Fraumeni / Predisposição Genética para Doença / Fumarato Hidratase / Neoplasias Tipo de estudo: Diagnostic_studies Limite: Adolescent / Female / Humans / Male Idioma: En Revista: Pediatr Blood Cancer Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteína Supressora de Tumor p53 / Síndrome de Li-Fraumeni / Predisposição Genética para Doença / Fumarato Hidratase / Neoplasias Tipo de estudo: Diagnostic_studies Limite: Adolescent / Female / Humans / Male Idioma: En Revista: Pediatr Blood Cancer Assunto da revista: HEMATOLOGIA / NEOPLASIAS / PEDIATRIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha