Novel disease loci
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
Jorge Luis Granadillo, Alexander P.A. Stegmann, Hui Guo, Kun Xia, Brad Angle, Kelly Bontempo, Judith D Ranells, Patricia Newkirk, Carrie Costin, Joleen Viront, Constanze T Stumpel, Margje Sinnema, Bianca Panis, Rolph Pfundt, Ingrid P C Krapels, Merel Klaassens, Joost Nicolai, Jinliang Li, Yuwu Jiang, Elysa Marco, Ana Canton, Ana Claudia Latronico, Luciana Montenegro, Bruno Leheup, Celine Bonnet, Shivarajan M. Amudhavalli, Caitlin E Lawson, Kirsty McWalter, Aida Telegrafi, Richard Pearson, Malin Kvarnung, Xia Wang, Weimin Bi, Jill Anne Rosenfeld, Marwan Shinawi
doi: 10.1136/jmedgenet-2019-106470
