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Publication
PropertyValue
Working Groups Winkelmann
SubprojectNone
Open AccessNo
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 37675773
DOIDOI 10.1016/j.gim.2023.100971
Publication Year2023
TitleATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
JournalGenetics in medicine : official journal of the American College of Medical Genetics
ISSN1098-3600
ESSN1530-0366
URL https://www.ncbi.nlm.nih.gov/pubmed/?term=37675773%5Buid%5D
Pages100971
Issue12
Volume25
Journal AbbreviationGenet Med
AuthorsPoggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla ÁG, Jang SS, Juliá-Palacios N, Keren B, Kopajtich R, Lynch SA, Mignot C, Moorwood C, Neuhofer C, Nigro V, Oostra A, Prokisch H, Saillour V, Schuermans N, Torella A, Verloo P, Yazbeck E, Zollino M, Jech R, Winkelmann J, Necpal J, Calì T, Brini M, Zech M
First AuthorPoggio E
Last AuthorZech M