AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

von Parisi, M A, Doherty, D, Eckert, M L, Shaw, D W W, Ozyurek, H, Aysun, S, Giray, O, Swaid, A Al, Shahwan, S Al, Dohayan, N, Bakhsh, E, Indridason, O S, Dobyns, W B, Bennett, C L, Chance, P F, Glass, I A
Veröffentlicht 2006

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

von Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Veröffentlicht 2009