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.