Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Iannicelli, M; Brancati, F; Mougou Zerelli, S; Mazzotta, A; Thomas, S; Elkhartoufi, N; Travaglini, L; Gomes, C; Ardissino, Gl; Bertini, E; Boltshauser, E; Castorina, P; D'Arrigo, S; Fischetto, R; Leroy, B; Loget, P; Bonnière, M; Starck, L; Tantau, J; Gentilin, B; Majore, S; Swistun, D; Flori, E; Lalatta, F; Pantaleoni, C; Penzien, J; Grammatico, P; International JSRD Study, Group; Dallapiccola, B; Gleeson, Jg; Attie Bitach, T; Valente, E. M.; Fazzi, Elisa Maria