Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

Kirsten A. Donald, Karynne Patterson, Carey‐Anne Evans, Géraldine Van Winckel, Rebecca C. Spillmann, Derek Lim, Veerle Janssens, Natasha J. Brown, The Undiagnosed Diseases Network, Renata Posmyk, Nicolas Chatron, Zornitza Stark, Aron Kirchhoff, Elise Brimble, Rebecca Buchert, Keri Ramsey, Anna Ruiz, Kimberly Foss, Jessica X. Chong, Ghayda Mirzaa, Elisa Giorgio, Emily O’Heir, Dorothy Grange, William Dobyns, Patricia Kipkemoi, Rachel Rabin, Simon Thomas, Tobias B. Haack, Raphaela Itzikowitz, Michael Wright, Richard Martin, Anita Devlin, Laurence Faivre, Vandana Shashi, Sofia Douzgou Houge, Julien Thevenon, Martin Delatycki, Moses Mangi, Mike Bamshad, Vinodh Narayanan, Celia van der Merwe, Stephanie Karch, Alessandro Mussa, Karen G C B Bindels de Heus, Marie‐Claire Y. de Wit, Juan Pablo Trujillo Quintero, Tony Roscioli, Kerith-Rae Dias, Peter Krawitz, Lynn Pais, Katherine Lachlan, Oliver Heath, Maureen Jacob, Hai Yuan, A. Stehr, Gunnar Houge, Hellen Lesmann, David Geneviève, Iris Verbinnen, Joanna Karwowska, Georg-Christoph Korenke, Rebecca J. Levy, Dorien Haesen, Lisa Lenaerts, Tzung‐Chien Hsieh, Raffaela Cervini, Susan M. White, John Pappas, Judith L. Weisenberg, Elysa Marco, Tahsin Stefan Barakat

Rattachement africain : us. Niveau de preuve : code pays fourni par la source.