Joubert syndrome 07
Joubert syndrome type 7 is an autosomal recessive disorder caused by mutations in the RPGRIP1L gene.
Arts HH et al. (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.[^]
Delous M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.[^]
Brancati F et al. (2008) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.[^]
OMIM.ORG articleOmim 611560 [^]