Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

Matthew P. Wilson, Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha Ranatunga, Marina Ventouratou, Melissa Baerenfaenger, Karin Huijben, Christian Thiel, Angel Ashikov, Liesbeth Keldermans, Erika Souche, Sandrine Vuillaumier‐Barrot, Thierry Dupré, Helen Michelakakis, Agata Fiumara, James Pitt, Susan M. White, Sze Chern Lim, Lyndon Gallacher, Heidi Peters, Daisy Rymen, Peter Witters, Antònia Ribes, Blai Morales‐Romero, Agustí Rodríguez‐Palmero, Diana Ballhausen, Pascale de Lonlay, Rita Barone, Mirian C. H. Janssen, Jaak Jaeken, Hudson H. Freeze, Gert Matthijs, Éva Morava, Dirk J. Lefeber