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

Get full text