Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

  • Irena J.J. Muffels
  • , Imre F. Schene
  • , Holger Rehmann
  • , Maarten P.G. Massink
  • , Maria M. van der Wal
  • , Corinna Bauder
  • , Martha Labeur
  • , Natalia G. Armando
  • , Maarten H. Lequin
  • , Michiel L. Houben
  • , Jaques C. Giltay
  • , Saskia Haitjema
  • , Albert Huisman
  • , Fleur Vansenne
  • , Judith Bluvstein
  • , John Pappas
  • , Lala V. Shailee
  • , Yuri A. Zarate
  • , Michal Mokry
  • , Gijs W. van Haaften
    • Edward E.S. Nieuwenhuis, Damian Refojo, Femke van Wijk, Sabine A. Fuchs, Peter M. van Hasselt

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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Biochemistry, Genetics and Molecular Biology