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The Broad Phenotypic Spectrum of PPP2R1A-related Neurodevelopmental Disorders Correlates with the Degree of Biochemical Dysfunction

Lisa Lenaerts,Sara Reynhout,Iris Verbinnen,Frédéric Laumonnier,Annick Toutain,Frédérique Bonnet-Brilhault,Yana Hoorne,Shelagh Joss,Anna K. Chassevent,Constance Smith-Hicks,Bart Loeys,Pascal Joset,Katharina Steindl,Anita Rauch,Sarju G. Mehta,Wendy K. Chung,Koenraad Devriendt,Susan E. Holder,Tamison Jewett, Lauren M. Baldwin,William G. Wilson,Shelley Towner,Siddharth Srivastava,Hannah F. Johnson,Cornelia Daumer-Haas,Martina Baethmann,Anna Ruiz,Elisabeth Gabau,Vani Jain,Vinod Varghese,Ali Al-Beshri,Stephen Fulton,Oded Wechsberg,Naama Orenstein,Katrina Prescott,Anne-Marie Childs,Laurence Faivre,Sébastien Moutton,Jennifer A. Sullivan,Vandana Shashi,Suzanne M. Koudijs,Malou Heijligers,Emma Kivuva,Amy McTague,Alison Male,Yvette van Ierland,Barbara Plecko,Isabelle Maystadt,Rizwan Hamid,Vickie L. Hannig,Gunnar Houge,Veerle Janssens

Genetics in Medicine（2020）

Cited 27|Views65
Key words
PPP2R1A,PP2A,intellectual disability,neurodevelopmental disorder,epilepsy
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