Okihiro syndrome is caused by SALL4 mutations. by Kohlhase, J, Heinrich, M, Schubert, L, Liebers, M, Kispert, A, Laccone, F, Turnpenny, P, Winter, R, Reardon, W

Truncated SALL1 impedes primary cilia function in Townes-Brocks Syndrome by Bozal-Basterra, L, Martín-Ruíz, M, Pirone, L, Liang, Y, Otti Sigurdsson, J, Gonzalez-Santamarta, M, Giordano, I, Gabicagogeascoa, E, de Luca, A, Rodríguez, J, Wilkie, A, Kohlhase, J, Eastwood, D, Yale, C, Olsen, J, Rauchman, M, Anderson, K, Sutherland, J, Barrio, R