1. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. Issue 11 (17th August 2018) Authors: Milev, Miroslav P; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F E; Al-Deri, Noraldin; Cordelli, Duccio Maria; Haack, Tobias B; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovann... Journal: Journal of medical genetics Issue: Volume 55:Issue 11(2018) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗