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Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Sehested, Astrid; Meade, Julia; Scheie, David; Østrup, Olga; Bertelsen, Birgitte; Misiakou, Maria Anna; Sarosiek, Tomasz; Kessler, Elena; Melchior, Linea C; Munch-Petersen, Helga Fibiger; Pai, Reetesh K; Schmuth, Matthias; Gottschling, Hendrik; Zschocke, Johannes; Gallon, Richard; Wimmer, Katharina.
Afiliação
  • Sehested A; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Meade J; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
  • Scheie D; Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Østrup O; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Bertelsen B; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Misiakou MA; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Sarosiek T; Department of Oncology, Luxmed Onkologia, Warsaw, Poland.
  • Kessler E; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
  • Melchior LC; Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Munch-Petersen HF; Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Pai RK; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
  • Schmuth M; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, Innsbruck, Austria.
  • Gottschling H; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Gallon R; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Wimmer K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Hum Mutat ; 43(1): 85-96, 2022 01.
Article em En | MEDLINE | ID: mdl-34816535
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Neoplásicas Hereditárias / Neoplasias Encefálicas / Neoplasias Colorretais Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Neoplásicas Hereditárias / Neoplasias Encefálicas / Neoplasias Colorretais Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adult / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article