Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Titel:
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
Auteur:
Verbinnen, Iris Douzgou Houge, Sofia Hsieh, Tzung-Chien Lesmann, Hellen Kirchhoff, Aron Geneviève, David Brimble, Elise Lenaerts, Lisa Haesen, Dorien Levy, Rebecca J. Thevenon, Julien Faivre, Laurence Marco, Elysa Chong, Jessica X. Bamshad, Mike Patterson, Karynne Mirzaa, Ghayda M. Foss, Kimberly Dobyns, William White, Susan M. Pais, Lynn O’Heir, Emily Itzikowitz, Raphaela Donald, Kirsten A. Van der Merwe, Celia Mussa, Alessandro Cervini, Raffaela Giorgio, Elisa Roscioli, Tony Dias, Kerith-Rae Evans, Carey-Anne Brown, Natasha J. Ruiz, Anna Trujillo Quintero, Juan Pablo Rabin, Rachel Pappas, John Yuan, Hai Lachlan, Katherine Thomas, Simon Devlin, Anita Wright, Michael Martin, Richard Karwowska, Joanna Posmyk, Renata Chatron, Nicolas Stark, Zornitza Heath, Oliver Delatycki, Martin Buchert, Rebecca Korenke, Georg-Christoph Ramsey, Keri Narayanan, Vinodh Grange, Dorothy K. Weisenberg, Judith L. Haack, Tobias B. Karch, Stephanie Kipkemoi, Patricia Mangi, Moses Bindels de Heus, Karen G.C.B. de Wit, Marie-Claire Y. Barakat, Tahsin Stefan Lim, Derek Van Winckel, Géraldine Spillmann, Rebecca C. Shashi, Vandana Jacob, Maureen Stehr, Antonia M. Krawitz, Peter Douzgos Houge, Gunnar Janssens, Veerle