Ferreira, C.R., Xia, Z.J., Clément, A., Parry, D.A., Davids, M., Taylan, F., Sharma, P., Turgeon, C.T., Blanco-Sánchez, B., Ng, B.G., Logan, C.V., Wolfe, L.A., Solomon, B.D., Cho, M.T., Douglas, G., Carvalho, D.R., Bratke, H., Haug, M.G., Phillips, J.B., Wegner, J., Tiemeyer, M., Aoki, K., Undiagnosed Diseases Network, Scottish Genome Partnership, Nordgren, A., Hammarsjö, A., Duker, A.L., Rohena, L., Hove, H.B., Ek, J., Adams, D., Tifft, C.J., Onyekweli, T., Weixel, T., Macnamara, E., Radtke, K., Powis, Z., Earl, D., Gabriel, M., Russi, A.H.S., Brick, L., Kozenko, M., Tham, E., Raymond, K.M., Phillips, J.A., Tiller, G.E., Wilson, W.G., Hamid, R., Malicdan, M.C.V., Nishimura, G., Grigelioniene, G., Jackson, A., Westerfield, M., Bober, M.B., Gahl, W.A., Freeze, H.H. (2018) A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American journal of human genetics. 103:553-567
|
Xia, Z.J., Zeng, X.I., Tambe, M., Ng, B.G., Dong, P.D.S., Freeze, H.H. (2021) A Dominant Heterozygous Mutation in COG4 Causes Saul-Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling. Frontiers in cell and developmental biology. 9:720688
|