De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
影响 PP2A 催化 Cα 亚基（PPP2CA）的新生突变会导致类似其他 PP2A 相关神经发育障碍的综合征性智力障碍。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.01.003
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; Braakman, Hilde M H; Brimble, Elise; Ruzhnikov, Maura R Z; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B A; Gordon, Christopher T; Janssens, Veerle; Vissers, Lisenka E L M
