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A deep intronic SMARCB1 variant associated with schwannomatosis.
Smith, Miriam J; Bowers, Naomi L; Banks, Catherine; Coates-Brown, Rosanna; Morris, Katrina A; Ewans, Lisa; Wilson, Meredith; Pinner, Jason; Bhaskar, Sanjeev S; Cammarata-Scalisi, Francisco; Wallace, Andrew J; Evans, Daffyd Gareth R.
Afiliação
  • Smith MJ; NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Bowers NL; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Banks C; NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Coates-Brown R; NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Morris KA; NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Ewans L; Concord Clinical School, University of Sydney and Royal North Shore Hospital, St Leonards, New South Wales, Australia.
  • Wilson M; Divisions of Genetic Medicine and Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.
  • Pinner J; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
  • Bhaskar SS; Divisions of Genetic Medicine and Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.
  • Cammarata-Scalisi F; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Wallace AJ; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
  • Evans DGR; NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Clin Genet ; 97(2): 376-377, 2020 02.
Article em En | MEDLINE | ID: mdl-31502250
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Cutâneas / Neurofibromatoses / Predisposição Genética para Doença / Proteína SMARCB1 / Neurilemoma Tipo de estudo: Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Cutâneas / Neurofibromatoses / Predisposição Genética para Doença / Proteína SMARCB1 / Neurilemoma Tipo de estudo: Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article