Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
Titel:
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
Auteur:
Muffels, Irena J.J. Schene, Imre F. Rehmann, Holger Massink, Maarten P.G. van der Wal, Maria M. Bauder, Corinna Labeur, Martha Armando, Natalia G. Lequin, Maarten H. Houben, Michiel L. Giltay, Jaques C. Haitjema, Saskia Huisman, Albert Vansenne, Fleur Bluvstein, Judith Pappas, John Shailee, Lala V. Zarate, Yuri A. Mokry, Michal van Haaften, Gijs W. Nieuwenhuis, Edward E.S. Refojo, Damian van Wijk, Femke Fuchs, Sabine A. van Hasselt, Peter M.