A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP
Annelise Yoo Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns, Steven A. Skinner, Øystein L. Holla, Marie Falkenberg Smeland, Marc Planes, Kévin Uguen, Sylvia Redon, Tatjana Bierhals, Tasja Scholz, Jonas Denecke, , Marwan S. Shinawi
The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.
medRxiv · Jun 19, 2023 · PreprintGenetic & Genomic Medicine