De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

by Abdullah, U., Altmüller, J., Asif, M., Brancati, F., Budde, B.S, De Luca, C., Fleischer, N., Hochscherf, J., Höning, S., Hsieh, T.-C, Hurst, A.C.E, Hussain, M.S, Italian Undiagnosed Diseases Network, Jose, J., Kaygusuz, E., Krawitz, P., Lindenblatt, D., Motameny, S., Nickelsen, A., Niefind, K., Nienberg, C., Noegel, A.A, Nürnberg, P., Pais, L., Paola Fortugno, Rudy, N.L, Samra, N.N, Savatt, J.M, Segal, I., Shinawi, M., Thiele, H., Tinschert, S., Wagle, P., White, S.M
Published 2022

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

by Alkhunaizi, E., Brandt, T., Chitayat, D.A, DeFilippo, C.P, Douglas, G.V, Dubbs, H.A, Elloumi, H.Z, Glassford, M.R, Graf, W.D, Hannibal, M.C, Héron, B., Kim, L.E, Marco, E.J, Mignot, C., Monaghan, K.G, Morrow, M.M, Myers, K.A, Parikh, S., Quinonez, S.C, Rajabi, F., Sarnat, H.B, Shankar, S.P, Shinawi, M.S, Steele, J.L, van de Kamp, J.J.P, Veerapandiyan, A., Waldman, A.T
Published 2022