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

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Detalles Bibliográficos
Autores Principales: Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie Line, Cho, Megan T, Roeder, Elizabeth, Denommé Pichon, Anne Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah Sara, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño Balcázar, Ignacio, Gómez Gutiérrez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: The American Journal of Human Genetics 5/21
Materias:
Acceso en línea:http://hdl.handle.net/10818/32978