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Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.
Leffler, Melanie; Puusepp, Sanna; Zilina, Olga; Zhu, Ying; Kuuse, Kati; Bain, Nicole; Burgess, Trent; Õunap, Katrin; Field, Michael.
Afiliação
  • Leffler M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia.
  • Puusepp S; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Zilina O; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
  • Zhu Y; Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia.
  • Kuuse K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Bain N; Department of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, NSW, Australia.
  • Burgess T; Victorian Clinical Genetics Service, MCRI, Royal Children's Hospital, Parkville, Australia; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, Australia.
  • Õunap K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Paediatrics, University of Tartu, Tartu, Estonia.
  • Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia. Electronic address: Mike.field@health.nsw.gov.au.
Eur J Med Genet ; 59(4): 257-62, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26689622
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptor IGF Tipo 1 / Transtornos do Crescimento / Deficiência Intelectual Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Austrália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptor IGF Tipo 1 / Transtornos do Crescimento / Deficiência Intelectual Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Austrália