Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Journal Of Medical Genetics
Doherty, D D; Parisi, M A MA; Finn, L S LS; Gunay-Aygun, M M; Al-Mateen, M M; Bates, D D; Clericuzio, C C; Demir, H H; Dorschner, M M; van Essen, A J AJ; Gahl, W A WA; Gentile, M M; Gorden, N T NT; Hikida, A A; Knutzen, D D; Ozyurek, H H; Phelps, I I; Rosenthal, P P; Verloes, A A; Weigand, H H; Chance, P F PF; Dobyns, W B WB; Glass, I A IA