OALib Journal期刊
ISSN: 2333-9721
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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
DOI: 10.1016/j.ajhg.2019.01.003
Alma Kuechler ,
Barak Tziperman ,
Bert B.A. de Vries ,
Cacha M.P.C.D. Peeters-Scholte ,
Carlo Marcelis ,
Carlos R. Ferreira ,
Christopher T. Gordon ,
Dagmar Wieczorek ,
Dorien Haesen ,
Elise Brimble ,
Ellen Macnamara ,
Ernie M.H.F. Bongers ,
Heather Mclaughlin ,
Hilde M.H. Braakman ,
Jeanne Amiel ,
Jessica Scott Schwoerer ,
Jolanda H. Schieving ,
Koen L. van Gassen ,
Marjolein Kriek ,
Marlène Rio ,
Matias Wagner ,
Maura R.Z. Ruzhnikov ,
Nicole Revencu ,
Nienke Verbeek ,
Ortal Barel ,
Paulien A. Terhal ,
Philip Harrer ,
Roger Ladda ,
Saleem Malik ,
Sandra Jansen ,
Sara Reynhout ,
Siska van Belle ,
Sonja A. de Munnik ,
Sonja Henry ,
Susan Sell ,
Veerle Janssens
Abstract:
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