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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

The autophagy scaffolding protein Wdfy3 helps regulate cortical size in mice. Le Duc et al. show that in humans, haploinsufficiency of WDFY3 leads to mild to mo

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Bibliographische Detailangaben
Hauptverfasser: Le Duc, Diana (VerfasserIn) , Kotzaeridou, Urania (VerfasserIn) , Syrbe, Steffen (VerfasserIn) , Driedger, Jan Henje (VerfasserIn) , Ziegler, Andreas (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: July 20, 2019
In: Brain
Year: 2019, Jahrgang: 142, Heft: 9, Pages: 2617-2630
ISSN:1460-2156
DOI:10.1093/brain/awz198
Online-Zugang:Verlag, Volltext: https://doi.org/10.1093/brain/awz198
Verlag, Volltext: https://academic.oup.com/brain/article/142/9/2617/5536588
Volltext
Verfasserangaben:Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anagnostou, Meron Azage, Renee Bend, Amber Begtrup, Natasha J. Brown, Benjamin Büttner, Megan T. Cho, Gregory M. Cooper, Jan H. Doering, Christèle Dubourg, David B. Everman, Michael S. Hildebrand, Francis Jeshira Reynoso Santos, Barbara Kellam, Jennifer Keller-Ramey, Johannes R. Lemke, Shuxi Liu, Dmitriy Niyazov, Katelyn Payne, Richard Person, Chloé Quélin, Rhonda E. Schnur, Brooke T. Smith, Jonathan Strober, Susan Walker, Mathew Wallis, Laurence Walsh, Sandra Yang, Ryan K.C. Yuen, Andreas Ziegler, Heinrich Sticht, Michael C. Pride, Lori Orosco, Verónica Martínez-Cerdeño, Jill L. Silverman, Jacqueline N. Crawley, Stephen W. Scherer, Konstantinos S. Zarbalis, Rami Jamra

MARC

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