Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

8., Travaglini L; Brancati, F; Silhavy, J; Iannicelli, M; Nickerson, E; Elkhartoufi, N; Scott, E; Spencer, E; Gabriel, S; Thomas, S; Ben Zeev, B; Bertini, E; Boltshauser, E; Chaouch, M; Cilio, Mr; de Jong, Mm; Kayserili, H; Ogur, G; Poretti, A; Signorini, S; Uziel, G; Zaki, Ms; Fazzi, Elisa Maria; Johnson, C; Attié Bitach, T; Gleeson, Jg; Valente, E. M.