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

Journal Article

Full Text

Duke Authors

Cited Authors

  • Küry, S; Besnard, T; Ebstein, F; Khan, TN; Gambin, T; Douglas, J; Bacino, CA; Craigen, WJ; Sanders, SJ; Lehmann, A; Latypova, X; Khan, K; Pacault, M; Sacharow, S; Glaser, K; Bieth, E; Perrin-Sabourin, L; Jacquemont, M-L; Cho, MT; Roeder, E; Denommé-Pichon, A-S; Monaghan, KG; Yuan, B; Xia, F; Simon, S; Bonneau, D; Parent, P; Gilbert-Dussardier, B; Odent, S; Toutain, A; Pasquier, L; Barbouth, D; Shaw, CA; Patel, A; Smith, JL; Bi, W; Schmitt, S; Deb, W; Nizon, M; Mercier, S; Vincent, M; Rooryck, C et al.

Published Date

  • April 2017

Published In

Volume / Issue

  • 100 / 4

Start / End Page

  • 689 - 689

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1016/j.ajhg.2017.03.003