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Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.
Van Dijck, Anke; van der Werf, Ilse M; Reyniers, Edwin; Scheers, Stefaan; Azage, Meron; Siefkas, Kiana; Van der Aa, Nathalie; Lacroix, Amy; Rosenfeld, Jill; Argiropoulos, Bob; Davis, Kellie; Innes, A Micheil; Mefford, Heather C; Mortier, Geert; Meuwissen, Marije; Kooy, R Frank.
Afiliação
  • Van Dijck A; Department of Medical Genetics, University of Antwerp, Belgium; Department of Medical Genetics, University Hospital Antwerp, Belgium. Electronic address: Anke.Vandijck@uantwerpen.be.
  • van der Werf IM; Department of Medical Genetics, University of Antwerp, Belgium.
  • Reyniers E; Department of Medical Genetics, University of Antwerp, Belgium; Department of Medical Genetics, University Hospital Antwerp, Belgium.
  • Scheers S; Department of Medical Genetics, University of Antwerp, Belgium; Department of Medical Genetics, University Hospital Antwerp, Belgium.
  • Azage M; Department of Medical Genetics, Children's Hospital of Pittsburgh, PA, USA.
  • Siefkas K; Department of Medical Genetics, Seattle Children's Hospital, Seattle, WA, USA.
  • Van der Aa N; Department of Medical Genetics, University of Antwerp, Belgium.
  • Lacroix A; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Rosenfeld J; Signature Genomic Laboratories, Spokane, WA, USA.
  • Argiropoulos B; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Davis K; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Mefford HC; Department of Medical Genetics, Seattle Children's Hospital, Seattle, WA, USA; Department of Pediatrics, University of Washington, Seattle, WA, USA.
  • Mortier G; Department of Medical Genetics, University of Antwerp, Belgium; Department of Medical Genetics, University Hospital Antwerp, Belgium.
  • Meuwissen M; Department of Medical Genetics, University Hospital Antwerp, Belgium.
  • Kooy RF; Department of Medical Genetics, University of Antwerp, Belgium.
Eur J Med Genet ; 58(10): 503-8, 2015 Oct.
Article em En | MEDLINE | ID: mdl-26327614
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trissomia / Cromossomos Humanos Par 1 / Anormalidades Craniofaciais / Sobrepeso / Megalencefalia Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trissomia / Cromossomos Humanos Par 1 / Anormalidades Craniofaciais / Sobrepeso / Megalencefalia Idioma: En Ano de publicação: 2015 Tipo de documento: Article