Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia
- Resource Type
- Journal
- Authors
- Broix, Loic; Jagline, Helene; Ivanova, Ekaterina L.; Schmucker, Stephane; Drouot, Nathalie; Clayton-Smith, Jill; Pagnamenta, Alistair T.; Metcalfe, Kay A.; Isidor, Bertrand; Louvier, Ulrike Walther; Poduri, Annapurna; Taylor, Jenny C.; Tilly, Peggy; Poirier, Karine; Saillour, Yoann; Lebrun, Nicolas; Stemmelen, Tristan; Rudolf, Gabrielle; Muraca, Giuseppe; Saintpierre, Benjamin; Elmorjani, Adrienne; Moise, Martin; Weirauch, Nathalie Bednarek; Guerrini, Renzo; Boland, Anne; Olaso, Robert; Masson, Cecile; Tripathy, Ratna; Keays, David; Beldjord, Cherif; Nguyen, Laurent; Godin, Juliette; Kini, Usha; Nischke, Patrick; Deleuze, Jean-Francois; Bahi-Buisson, Nadia; Sumara, Izabela; Hinckelmann, Maria-Victoria; Chelly, Jamel; Deciphering Dev Disorders Study
- Source
- NATURE GENETICS; NOV 2016, 48 11, p1349-p1358, 10p.
- Subject
- Language
- English
- ISSN
- 15461718