ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
Resource Type
Article
Authors
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