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Joubert syndrome (and related disorders) (OMIM 213300).
Parisi MA, Doherty D, Chance PF, Glass IA. Parisi MA, et al. Eur J Hum Genet. 2007 May;15(5):511-21. doi: 10.1038/sj.ejhg.5201648. Epub 2007 Mar 21. Eur J Hum Genet. 2007. PMID: 17377524
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. Parisi MA, et al. J Med Genet. 2006 Apr;43(4):334-9. doi: 10.1136/jmg.2005.036608. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155189 Free PMC article.