Der Typ 7 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen RPGRIP1L hervorgerufen wird.
1. |
Arts HH et al. (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. |
2. |
Delous M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. |
3. |
Brancati F et al. (2008) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. |
4. |
OMIM.ORG article Omim 611560 |