Rooryck, C., Diaz-Font, A., Osborn, D.P., Chabchoub, E., Hernandez-Hernandez, V., Shamseldin, H., Kenny, J., Waters, A., Jenkins, D., Kaissi, A.A., Leal, G.F., Dallapiccola, B., Carnevale, F., Bitner-Glindzicz, M., Lees, M., Hennekam, R., Stanier, P., Burns, A.J., Peeters, H., Alkuraya, F.S., and Beales, P.L. (2011) Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nature Genetics. 43(3):197-203

Rooryck, C., Diaz-Font, A., Osborn, D.P., Chabchoub, E., Hernandez-Hernandez, V., Shamseldin, H., Kenny, J., Waters, A., Jenkins, D., Kaissi, A.A., Leal, G.F., Dallapiccola, B., Carnevale, F., Bitner-Glindzicz, M., Lees, M., Hennekam, R., Stanier, P., Burns, A.J., Peeters, H., Alkuraya, F.S., and Beales, P.L. (2011) Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nature Genetics. 43(3):197-203