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 E;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;[International JSRD Study Group];Valente EM;Gleeson JG;Smith P;Leventer R;Janecke A;Van Coster R;Dias K;Moco C;Moreira A;Chong AK;Maegawa G;Abdel Salam GMH;Abdel Aleem A;Zaki MS;Martu I;Quijano Roy S;De Lonlay P;Verloes A;Touraine R;Koenig M;Lagier Tourenne C;Messer J;Philippi H;Tzeli SK;Halldorsson S;Johannsdotir J;Ludvigsson P;Magee A;Lev D;Michelson M;Ben Zev B;Fischetto R;Gentile M;Battaglia S;Giordano L;Boccone L;RUGGIERI, MARTINO;Bigoni S;Ferlini A;Donati MA;Procopio E;Cardidi G;Faravelli F;Ghiggeri G;Briuglia S;Tortorella G;D’Arrigo S;Pantaleoni C;Riva D;Uziel G;Lavercla AM;Permunian A;Bova S;Battini R;Cilio MR;Di Sabato M;Emma F;Leuzzi V;Parisi P;Simonati A;Al Tawari AA;Bastaki L;Aqeel A;De Jong MM;Koul R;Rajab A;Azam M;Barbot C;Rodriguez B;Pascual Castroviejo I;Comu S;Akcakus M;Nicholl D;Woods CG;Bennet C;Hurst J;Walsh CA;Bernes S;Sanchez H;Clark AE;Donahue C;Hahn J;Sanger TD;Gallager TE;Dobyns WB;Daugherty C;Krishnamoorthy KS;Sarco D;McKanna T;Milisa J;Chung WK;De Vivo DC;Raynes H;Schubert R;Seward A;Brooks DG;Goldstein A;Caldwell J;Finsecke E;Maria BL;Holden K;Cruse RP;Swoboda KJ

2007-01-01