Publication
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 K. 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, Antonia 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, Eva Morava, Dirk J. Lefeber
The American Journal of Human Genetics, November 2021, Elsevier
DOI: 10.1016/j.ajhg.2021.09.012