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Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Perez-Valencia, Juan A; Gallon, Richard; Chen, Yunjia; Koch, Jakob; Keller, Markus; Oberhuber, Klaus; Gomes, Alicia; Zschocke, Johannes; Burn, John; Jackson, Michael S; Santibanez-Koref, Mauro; Messiaen, Ludwine; Wimmer, Katharina.
Afiliação
  • Perez-Valencia JA; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Gallon R; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Koch J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Keller M; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Oberhuber K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Burn J; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Jackson MS; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Santibanez-Koref M; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Messiaen L; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Wimmer K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. katharina.wimmer@i-med.ac.at.
Genet Med ; 22(12): 2081-2088, 2020 12.
Article em En | MEDLINE | ID: mdl-32773772
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Neoplasias Colorretais / Neurofibromatose 1 Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Risk_factors_studies Limite: Child / Humans País/Região como assunto: America do norte / Europa Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Áustria
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Neoplasias Colorretais / Neurofibromatose 1 Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Risk_factors_studies Limite: Child / Humans País/Região como assunto: America do norte / Europa Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Áustria