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.
J Med Genet. 2006 Apr;43(4):334-9. Epub 2005 Sep 9.PMID: 16155189 [PubMed - indexed for MEDLINE]Related articlesFree article