• Media type: E-Article
  • Title: De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
  • Contributor: Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A.; Bongers, Ernie M.H.F.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlène; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M.P.C.D.; Terhal, Paulien A.; van Gassen, Koen L.; Verbeek, Nienke; Henry, Sonja; Schwoerer, Jessica Scott; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R.; Macnamara, Ellen; [...]
  • imprint: Elsevier BV, 2019
  • Published in: The American Journal of Human Genetics
  • Language: English
  • DOI: 10.1016/j.ajhg.2019.01.003
  • ISSN: 0002-9297
  • Origination:
  • Footnote:
  • Access State: Open Access