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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

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Description scientific article
Author/s

author: Brigitte Gilbert-Dussardier  Thomas Besnard  Jill A Rosenfeld  Anne-Sophie Denommé-Pichon  Valérie Malan  Deborah Barbouth  Frédéric Ebstein  Kimberly Glaser  Wallid Deb  Stephanie Sacharow  Laurence Perrin-Sabourin  Xénia Latypova  Yaping Yang  Stéphane Bézieau  Caroline Rooryck  Peter-Michael Kloetzel  Christelle Golzio  Pawel Stankiewicz  Benjamin Cogné  Carlos A Bacino  Annick Toutain  Tomasz Gambin  Marie-Line Jacquemont  James R. Lupski  Nicholas Katsanis  Richard Redon  Stephan J. Sanders  Alberto Gómez  Evan E. Eichler  Dominique Bonneau  Laurent Pasquier  Marie Vincent  Sébastien Küry 

Publication date January 25, 2017
Language English
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