Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

por Perrault, I, Saunier, S, Hanein, S, Filhol, E, Bizet, A, Collins, F, Salih, M, Silva, E, Baudouin, V, Oud, M, Shannon, N, Le Merrer, M, Pietrement, C, Beales, P, Arts, H, Munnich, A, Kaplan, J, Antignac, C, Cormier Daire, V, Rozet, JM
Publicado 2012

Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration

por Becker-Heck, A, Bizet, A, Ryan, R, Krug, P, Filhol, E, Linghu, B, Oakeley, E, Serluca, F, Legendre, F, Dörner, N, Lasbennes, MC, Duca, J, Yang, F, Damask, A, Klickstein, L, Labow, M, Schebesta, M, Bouwmeester, T, Valette, H, Pinson, L, Goubaux, B, Dubot, P, Salomon, R, Antignac, C, Gubler, M, Jeanpierre, C, Chibout, S, Bole-Feysot, C, Nitschké, P, Benmerah, A, Szustakowski, JD, Sailer, AW, Saunier, S, Saint-Mezard, P
Publicado 2015