1. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome. (20th June 2018) Authors: Van Damme, Tim; Pang, Xiaomeng; Guillemyn, Brecht; Gulberti, Sandrine; Syx, Delfien; De Rycke, Riet; Kaye, Olivier; de Die-Smulders, Christine E M; Pfundt, Rolph; Kariminejad, Ariana; Nampoothiri, Sheela; Pierquin, Geneviève; Bulk, Saskia; Larson, Austin A; Chatfield, Kathryn C; Simon, Marleen; L... Journal: Human molecular genetics Issue: Volume 27:Number 20(2018:Oct. 15) Page Start: 3475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗