1. A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. Issue 3 (5th October 2016) Authors: Koehler, Katrin; Milev, Miroslav P.; Prematilake, Keshika; Reschke, Felix; Kutzner, Susann; Jühlen, Ramona; Landgraf, Dana; Utine, Eda; Hazan, Filiz; Diniz, Gulden; Schuelke, Markus; Huebner, Angela; Sacher, Michael Journal: Journal of medical genetics Issue: Volume 54:Issue 3(2017) Page Start: 176 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗