A Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1-mediated Trabeculation Cessation
Wei Shi, Angel P. Scialdone, James I. Emerson, Mei Liu, Lauren K. Wasson, Haley A. Davies, Christine E. Seidman, Jonathan G. Seidman, Jeanette Gowen Cook, Frank L. Conlon
This study identifies a CHD4 missense mutation causing ventricular noncompaction by repressing ADAMTS1-mediated trabeculation cessation in mice and humans.
bioRxiv · Sep 12, 2022 · PreprintDevelopmental Biology