COACH-Syndrom

Verloes A et al. (1989) Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.

Gentile M et al. (1996) COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.

Doherty D et al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Gorden NT et al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Dieterich E et al. (1980) Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia.

Kumar S et al. (1996) Renal insufficiency is a component of COACH syndrome.

Foell D et al. (2002) Early detection of severe cholestatic hepatopathy in COACH syndrome.

Brancati F et al. (2009) MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

OMIM.ORG article

Orphanet article