A Novel Intronic Pathogenic Variant in With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia

by Erin Finn MD, Kimberly Kripps MD, Christina Chambers MD, Michele Rapp MS, Naomi J. L. Meeks MD, Fang Xu PhD, Wuyan Chen PhD, Austin A. Larson MD, Natalie J. Nokoff MD, MSCS
Published 2021-05-01

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy

by Austin A. Larson, Peter R. Baker, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron D. Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore
Published 2018-05-01