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Evidence for a low-penetrant extended phenotype of rhabdoid tumor predisposition syndrome type 1 from a kindred with gain of SMARCB1 exon 6.
Kordes, Uwe; Mautner, Victor-Felix; Oyen, Florian; Hagel, Christian; Hartmann, Christian; Heuser, Michael; Frühwald, Michael; Hasselblatt, Martin; Oehl-Huber, Kathrin; Siebert, Reiner; Schneppenheim, Reinhard; Schüller, Ulrich.
Afiliação
  • Kordes U; Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Mautner VF; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Oyen F; Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Hagel C; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Hartmann C; Department of Neuropathology, Institute of Pathology, Hannover Medical School, Hannover, Germany.
  • Heuser M; Department of Hematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, Hannover, Germany.
  • Frühwald M; University Children's Hospital Augsburg, Swabian Children's Cancer Center, Augsburg, Germany.
  • Hasselblatt M; Institute of Neuropathology, University Hospital Münster, Münster, Germany.
  • Oehl-Huber K; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
  • Siebert R; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
  • Schneppenheim R; Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Schüller U; Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Pediatr Blood Cancer ; 68(10): e29185, 2021 10.
Article em En | MEDLINE | ID: mdl-34101994

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Encefálicas / Tumor Rabdoide / Proteína SMARCB1 / Neoplasias Renais Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Encefálicas / Tumor Rabdoide / Proteína SMARCB1 / Neoplasias Renais Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article