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Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype.
Blombery, Piers; Ryland, Georgina L; Fox, Lucy C; Stark, Zornitza; Wall, Meg; Jarmolowicz, Anna; Roesley, Ain; Thompson, Ella R; Grimmond, Sean M; Panicker, Shyam; Kwok, Fiona.
Afiliação
  • Blombery P; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
  • Ryland GL; Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia.
  • Fox LC; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
  • Stark Z; Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia.
  • Wall M; The University of Melbourne Centre for Cancer Research, Melbourne, Victoria, Australia.
  • Jarmolowicz A; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
  • Roesley A; Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia.
  • Thompson ER; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Grimmond SM; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Panicker S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
  • Kwok F; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Br J Haematol ; 198(1): 196-199, 2022 07.
Article em En | MEDLINE | ID: mdl-35381620

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Glicosilases / Neoplasias Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Glicosilases / Neoplasias Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article