Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features
Titel:
Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features
Auteur:
Rademacher, Nils Hambrock, Melanie Fischer, Ute Moser, Bettina Ceulemans, Berten Lieb, Wolfgang Boor, Rainer Stefanova, Irina Gillessen-Kaesbach, Gabriele Runge, Charlotte Korenke, Georg Christoph Spranger, Stefanie Laccone, Franco Tzschach, Andreas Kalscheuer, Vera M.