1. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Issue 9 (6th May 2016) Authors: Roosing, Susanne; Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hülya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R; McKanna, Tru... Journal: Journal of medical genetics Issue: Volume 53:Issue 9(2016) Page Start: 608 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗