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De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
Stokman, Marijn F; Oud, Machteld M; van Binsbergen, Ellen; Slaats, Gisela G; Nicolaou, Nayia; Renkema, Kirsten Y; Nijman, Isaac J; Roepman, Ronald; Giles, Rachel H; Arts, Heleen H; Knoers, Nine V A M; van Haelst, Mieke M.
Afiliação
  • Stokman MF; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Oud MM; Department of Human Genetics, Radboud Insitute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.
  • van Binsbergen E; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Slaats GG; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Nicolaou N; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Renkema KY; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Nijman IJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Roepman R; Department of Human Genetics, Radboud Insitute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.
  • Giles RH; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Arts HH; Department of Human Genetics, Radboud Insitute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.
  • Knoers NV; Department of Biochemistry, University of Western Ontario, London, Canada.
  • van Haelst MM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
Am J Med Genet A ; 170(6): 1566-9, 2016 06.
Article em En | MEDLINE | ID: mdl-26892345
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Cromossomos Humanos Par 14 / Proteínas de Transporte / Deleção Cromossômica / Cardiopatias Congênitas / Deficiência Intelectual / Miopia Idioma: En Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Cromossomos Humanos Par 14 / Proteínas de Transporte / Deleção Cromossômica / Cardiopatias Congênitas / Deficiência Intelectual / Miopia Idioma: En Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda