| 1 | CC2D2A, COACH1, COACH2, COACH3, RPGRIP1L, TMEM67 |
| Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). | |
| Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. | |
| J Med Genet 47(1):8-21. Epub 2009 Jul 1. 2010 | |
| 2 | COACH1, COACH2, COACH3 |
| COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation. | |
| Gentile M, Di Carlo A, Susca F, Gambotto A, Caruso ML, Panella C, Vajro P, Guanti G. | |
| Am J Med Genet 64(3):514-20. 1996 | |