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A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype.
Vincent, Krista Marie; Stavropoulos, Dimitri J; Beaulieu-Bergeron, Melanie; Yang, Chen; Jiang, Mary; Zuijdwijk, Caroline; Dyment, David A; Graham, Gail E.
Afiliação
  • Vincent KM; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Stavropoulos DJ; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
  • Beaulieu-Bergeron M; Genome Diagnostics, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
  • Yang C; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Jiang M; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
  • Zuijdwijk C; Department of Pediatrics, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA.
  • Dyment DA; Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA.
  • Graham GE; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Am J Med Genet A ; 188(8): 2421-2428, 2022 08.
Article em En | MEDLINE | ID: mdl-35593535
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Silver-Russell Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Silver-Russell Idioma: En Ano de publicação: 2022 Tipo de documento: Article