title: Clinical utility gene card for: Joubert syndrome.
authors: Neurogenetics Unit, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. e.valente@css-mendel.it
authors: Enza Maria
authors: EM
authors: Valente
authors: Francesco
authors: F
authors: Brancati
authors: Eugen
authors: E
authors: Boltshauser
authors: Bruno
authors: B
authors: Dallapiccola
mesh_terms: D000015:Abnormalities, Multiple; D002526:Cerebellar Diseases / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000175:diagnosis / Q000235:genetics*; D012160:Retina / Q000002:abnormalities; D012680:Sensitivity and Specificity