| 1 | CORS3, JBTS7, MKS5, NPHP8, RPGRIP1L
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| Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.
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| Devuyst O, Arnould VJ.
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| Nephrol Dial Transplant 23(5):1500-3. Epub 2008 Feb 14. Review. No abstract available.
2008
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| 2 | JBTS7,MKS5,NPHP8,RPGRIP1L
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| Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
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| Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Marker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R.
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| Nat Genet 39(7):882-8. Epub 2007 Jun 10. 2007
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| 3 | JBTS7,MKS5,NPHP8,RPGRIP1L
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| The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
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| Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury S, Attie-Bitach T, Saunier S.
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| Nat Genet 39(7):875-81. Epub 2007 Jun 10. 2007
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| 4 | CEP290, MKS1, MKS2, MKS3, MKS4, MKS5, RPGRIP1L, TMEM67
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| Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.
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| Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM.
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| Am J Med Genet A 143(15):1715-25. 2007
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