Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet. 2007; ; 39 : :882.–888. 27.
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The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 2007; ; 80 : :186.–194. 26. Arts HH, Doherty D, van Beersum SEC, et al.
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