Condition: JOUBERT SYNDROME 7


rs121918198 in RPGRIP1L gene and JOUBERT SYNDROME 7 PMID 17558409 2007 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

PMID 17960139 2007 Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 22693042 2012 Molecular characterization of Joubert syndrome in Saudi Arabia.

PMID 17558407 2007 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

PMID 17553904 2007 Ftm is a novel basal body protein of cilia involved in Shh signalling.