1. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Issue 4 (9th September 2005) Authors: Parisi, M A; Doherty, D; Eckert, M L; Shaw, D W W; Ozyurek, H; Aysun, S; Giray, O; Al Swaid, A; Al Shahwan, S; Dohayan, N; Bakhsh, E; Indridason, O S; Dobyns, W B; Bennett, C L; Chance, P F; Glass, I A Journal: Journal of medical genetics Issue: Volume 43:Issue 4(2006) Page Start: 334 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗