ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
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Published:2023-12
Issue:12
Volume:25
Page:100971
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
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 MichaelORCID
Subject
Genetics (clinical)
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