Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Shino Shimada, Bobby G Ng, Amy L White, Kim K Nickander, Coleman Turgeon, Kristen L Liedtke, Christina T Lam, Esperanza Font-Montgomery, Charles M Lourenco, Miao He, Dawn S Peck, Luis A Umana, Crescenda L Uhles, Devon Haynes, Patricia G Wheeler, Michael J Bamshad, Deborah A Nickerson, Tom Cushing, Ryan Gates, Natalia Gomez-Ospina, Heather M Byers, UW Center for Mendelian Genomics, Fernanda B Scalco, Noelia N Martinez, Rani Sachdev, Lacey Smith, Annapurna Poduri, Stephen Malone, Rebekah V Harris, Ingrid E Scheffer, Sergio D Rosenzweig, David R Adams, William A Gahl, May Christine V Malicdan, Kimiyo M Raymond, Hudson H Freeze, Lynne A Wolfe
Journal of Medical Genetics Nov 2022, 59 (11) 1104-1115; DOI: 10.1136/jmedgenet-2021-108177
