Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
Peter T. A. Linders, Eveline C. F. Gerretsen, Angel Ashikov…·Geert van den Bogaart
This study identifies a congenital disorder of glycosylation caused by a missense variant in the second starting methionine of syntaxin-5, leading to loss of the short isoform and multisystem disease.