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

  • Sara Reynhout
  • , Sandra Jansen
  • , Dorien Haesen
  • , Siska van Belle
  • , Sonja A. de Munnik
  • , Ernie M.H.F. Bongers
  • , Jolanda H. Schieving
  • , Carlo Marcelis
  • , Jeanne Amiel
  • , Marlène Rio
  • , Heather Mclaughlin
  • , Roger Ladda
  • , Susan Sell
  • , Marjolein Kriek
  • , Cacha M.P.C.D. Peeters-Scholte
  • , Paulien A. Terhal
  • , Koen L. van Gassen
  • , Nienke Verbeek
  • , Sonja Henry
  • , Jessica Scott Schwoerer
    • Saleem Malik, Nicole Revencu, Carlos R. Ferreira, Ellen Macnamara, Hilde M.H. Braakman, Elise Brimble, Maura R.Z. Ruznikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers

Research output: Contribution to journal › Article › peer-review

51 Scopus citations

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Biochemistry, Genetics and Molecular Biology