학술논문
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
Document Type
Article
Author
Poggio, Elena; Barazzuol, Lucia; Salmaso, Andrea; Milani, Celeste; Deligiannopoulou, Adamantia; Cazorla, Ángeles García; Jang, Se Song; Juliá-Palacios, Natalia; Keren, Boris; Kopajtich, Robert; Lynch, Sally Ann; Mignot, Cyril; Moorwood, Catherine; Neuhofer, Christiane; Nigro, Vincenzo; Oostra, Anna; Prokisch, Holger; Saillour, Virginie; Schuermans, Nika; Torella, Annalaura; Verloo, Patrick; Yazbeck, Elise; Zollino, Marcella; Jech, Robert; Winkelmann, Juliane; Necpal, Jan; Calì, Tito; Brini, Marisa; Zech, Michael
Source
In Genetics in Medicine December 2023 25(12)
Subject
Language
ISSN
1098-3600