384 - Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

Shiyu Luo, University of Miami Leonard M. Miller School of Medicine, Miami, FL, United States; Valérie Gailus-Durner, Helmholtz Munich, Neuherberg, Bayern, Germany; Bobbi McGivern, GeneDx, Gaithersburg, MD, United States; Qifei Li, University of Miami Miller School of Medicine and Holtz Children's Hospital, Miami, FL, United States; Jessica Kottmeier, University of Missouri, Columbia, MO, United States; Mai-Lan Ho, University of Missouri-Columbia School of Medicine, Columbia, MO, United States; Erfan Aref-Eshghi, GeneDx, Philadelphia, PA, United States; Amanda Brodeur, University of Missouri-Columbia School of Medicine, Columbia, MO, United States; Klaus Schmitz-Abe, University of Miami Leonard M. Miller School of Medicine, Miami, FL, United States; Casie A. Genetti, Boston Children's Hospital, Boston, MA, United States; Jonathan M. Picker, Boston Childrens Hospital, Boston, MA, United States; Reem Ibrahim Bux, Hamad Medical Corporation, Doha, Ad Dawhah, Qatar; Helmut Fuchs, Helmholtz Munich, Neuherberg, Bayern, Germany; Martin Hrabě de Angelis, Helmholtz Zentrum München GmbH, Neuherbreg, Bayern, Germany; Pankaj B.. Agrawal, University of Miami Leonard M. Miller School of Medicine, Miami, FL, United States