Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Médéric Jeanne, Hélène Demory, Aubin Moutal, Marie Laure Vuillaume, Sophie Blesson, Rose Anne Thépault, Sylviane Marouillat, Judith Halewa, Saskia M. Maas, M. Mahdi Motazacker, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Avgi Andreou, Helene Cox, Julie Vogt, Jason Laufman, Natella Kostandyan, Davit Babikyan, Miroslava Hancarova, Sarka BendovaZdenek Sedlacek, Kimberly A. Aldinger, Elliott H. Sherr, Emanuela Argilli, Eleina M. England, Séverine Audebert-Bellanger, Dominique Bonneau, Estelle Colin, Anne Sophie Denommé-Pichon, Brigitte Gilbert-Dussardier, Bertrand Isidor, Sébastien Küry, Sylvie Odent, Richard Redon, Rajesh Khanna, William B. Dobyns, Stéphane Bézieau, Jérôme Honnorat, Bernhard Lohkamp, Annick Toutain, Frédéric Laumonnier

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Biochemistry, Genetics and Molecular Biology

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Neuroscience