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Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
Brereton, Rebecca E; Nickerson, Sarah L; Woodward, Karen J; Edwards, Tracey; Sivamoorthy, Soruba; Ramos Vasques Walters, Fabiana; Chabros, Vicki; Marchin, Vanessa; Grumball, Tanya; Kennedy, Dagmara; Uzaraga, Joan; Peverall, Joanne; Arscott, Gillian; Beilby, John; Choong, Catherine S; Townshend, Sharron; Azmanov, Dimitar N.
Afiliação
  • Brereton RE; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Nickerson SL; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Woodward KJ; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Edwards T; Pathology and Laboratory Medicine, Medical School, The University of Western Australia Faculty of Health and Medical Sciences, Perth, Western Australia, Australia.
  • Sivamoorthy S; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Ramos Vasques Walters F; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Chabros V; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Marchin V; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Grumball T; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Kennedy D; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Uzaraga J; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Peverall J; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Arscott G; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Beilby J; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Choong CS; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia.
  • Townshend S; Pathology and Laboratory Medicine, Medical School, The University of Western Australia Faculty of Health and Medical Sciences, Perth, Western Australia, Australia.
  • Azmanov DN; The University of Western Australia School of Biomedical Sciences, Nedlands, Western Australia, Australia.
Am J Med Genet A ; 185(10): 3136-3145, 2021 10.
Article em En | MEDLINE | ID: mdl-34223693
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Proteínas de Ligação a DNA / Síndrome de Silver-Russell Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Proteínas de Ligação a DNA / Síndrome de Silver-Russell Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália