A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Document Type
Journal Article
Publication Date
10-4-2018
Journal
American journal of human genetics
Volume
103
Issue
4
Inclusive Pages
553-567
DOI
10.1016/j.ajhg.2018.09.003
APA Citation
Ferreira, C., Xia, Z., Clément, A., Parry, D., Davids, M., Taylan, F., Sharma, P., Turgeon, C., Blanco-Sánchez, B., Ng, B., Logan, C., Wolfe, L., Solomon, B., Cho, M., Douglas, G., Carvalho, D., Bratke, H., Haug, M., Phillips, J., Wegner, J., Tiemeyer, M., Aoki, K., Nordgren, A., Hammarsjö, A., Duker, A., Rohena, L., Hove, H., Ek, J., Adams, D., Tifft, C., Onyekweli, T., Weixel, T., Macnamara, E., Radtke, K., Powis, Z., Earl, D., Gabriel, M., Russi, A., Brick, L., Kozenko, M., Tham, E., Raymond, K., Phillips, J., Tiller, G., Wilson, W., Hamid, R., Malicdan, M., Nishimura, G., Grigelioniene, G., Jackson, A., Westerfield, M., Bober, M., Gahl, W., & Freeze, 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 (4). http://dx.doi.org/10.1016/j.ajhg.2018.09.003
Peer Reviewed
1
