CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Brancati, F; Barrano, G; Silhavy, Jl; Marsh, Se; Travaglini, L; Bielas, Sl; Amorini, M; Zablocka, D; Kayserili, H; AL GAZALI, L; Bertini, E; Boltshauser, E; D'Hooghe, M; Fazzi, ELISA MARIA; Fenerci, Ey; Hennekam, Rc; Kiss, A; Lees, Mm; Marco, E; Phadke, Sr; Rigoli, L; Romano, S; Salpietro, Cd; Sherr, Eh; Signorini, S; Stromme, P; Stuart, B; Sztriha, L; Viskochil, Dh; Yuksel, A; Dallapiccola, B; INTERNATIONAL JSRD STUDY, Group; Valente, ENZA MARIA; Gleeson, Jg