Buysse, K., Riemersma, M., Powell, G., van Reeuwijk, J., Chitayat, D., Roscioli, T., Kamsteeg, E.J., van den Elzen, C., van Beusekomm, E., Blaser, S., Babul-Hirji, R., Halliday, W., Wright, G.J., Stemple, D.L., Lin, Y.Y., Lefeber, D.J., and van Bokhoven, H. (2013) Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Human molecular genetics. 22(9):1746-1754

Buysse, K., Riemersma, M., Powell, G., van Reeuwijk, J., Chitayat, D., Roscioli, T., Kamsteeg, E.J., van den Elzen, C., van Beusekomm, E., Blaser, S., Babul-Hirji, R., Halliday, W., Wright, G.J., Stemple, D.L., Lin, Y.Y., Lefeber, D.J., and van Bokhoven, H. (2013) Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Human molecular genetics. 22(9):1746-1754