NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders
M Castori, E M Valente, M A Donati, S Salvi, E Fazzi, E Procopio, T Galluccio, F Emma, B Dallapiccola, E Bertini
Journal of Medical Genetics Feb 2005, 42 (2) e9; DOI: 10.1136/jmg.2004.027375