De Novo Mutations Affecting the Catalytic C alpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Author(s):
Reynhout, S.; Jansen, S.; Haesen, D.; Belle, S. van; Munnik, S.A. de; Bongers, E.M.H.F.; Schieving, J.H.; Marcelis, C.; Amiel, J.; Rio, M.; Mclaughlin, H.; Ladda, R.; Sell, S.; Kriek, M.; Peeters-Scholte, C.M.P.C.D.; Terhal, P.A.; Gassen, K.L. van; Verbeek, N.; Henry, S.; Schwoerer, J.S.; Malik, S.; Revencu, N.; Ferreira, C.R.; Macnamara, E.; Braakman, H.M.H.; Brimble, E.; Ruznikov, M.R.Z.; Wagner, M.; Harrer, P.; Wieczorek, D.; Kuechler, A.; Tziperman, B.; Barel, O.; Vries, B.B.A. de; Gordon, C.T.; Janssens, V.; Vissers, L.E.L.M.
Published
2019
Publication type
Article / Letter to editor
Date issued
2019-01-03
Language
English
Is part of
American Journal of Human Genetics (2019), Vol. 104, no. 1, p. 139-156
hdl
1887/119520
doi
10.1016/j.ajhg.2018.12.002