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Rare SUZ12 variants commonly cause an overgrowth phenotype.
Cyrus, Sharri S; Cohen, Ana S A; Agbahovbe, Ruky; Avela, Kristiina; Yeung, Kit S; Chung, Brian H Y; Luk, Ho-Ming; Tkachenko, Nataliya; Choufani, Sanaa; Weksberg, Rosanna; Lopez-Rangel, Elena; Brown, Kathleen; Saenz, Margarita S; Svihovec, Shayna; McCandless, Shawn E; Bird, Lynne M; Garcia, Aixa Gonzalez; Gambello, Michael J; McWalter, Kirsty; Schnur, Rhonda E; An, Jianghong; Jones, Steven J M; Bhalla, Sanjiv K; Pinz, Hailey; Braddock, Stephen R; Gibson, William T.
Afiliação
  • Cyrus SS; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Cohen ASA; British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
  • Agbahovbe R; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Avela K; British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
  • Yeung KS; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Chung BHY; British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
  • Luk HM; Department of Clinical Genetics, Helsinki University Hospital, HUSLAB, Helsinki, Finland.
  • Tkachenko N; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
  • Choufani S; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, Hong Kong.
  • Weksberg R; Clinical Genetic Service, Department of Health, Hong Kong, Hong Kong.
  • Lopez-Rangel E; Medical Genetics Service, Medical Genetics Center Dr. Jacinto de Magalhães, Porto Hospital Center, Porto, Portugal.
  • Brown K; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Saenz MS; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Svihovec S; Department of Pediatrics and Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
  • McCandless SE; Department of Medical Genetics, British Columbia Children's Hospital, Vancouver, British Columbia, Canada.
  • Bird LM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Garcia AG; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
  • Gambello MJ; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
  • McWalter K; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
  • Schnur RE; Section of Genetics and Metabolism, Department of Pediatrics, The Children's Hospital Colorado, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
  • An J; Department of Pediatrics, University of California, San Diego, California.
  • Jones SJM; Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California.
  • Bhalla SK; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
  • Pinz H; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
  • Braddock SR; Clinical Genomics, GeneDx, Gaithersburg, Maryland.
  • Gibson WT; Clinical Genomics, GeneDx, Gaithersburg, Maryland.
Am J Med Genet C Semin Med Genet ; 181(4): 532-547, 2019 12.
Article em En | MEDLINE | ID: mdl-31736240

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article