DeSanto, C., D'Aco, K., Araujo, G. C., Shannon, N., DDD Study, Vernon, H., Rahrig, A., Monaghan, K. G., Niu, Z., Vitazka, P., Dodd, J., Tang, S., Manwaring, L., Martir-Negron, A., Schnur, R. E., Juusola, J., Schroeder, A., Pan, V., Helbig, K. L., Friedman, B., … Shinawi, M. (2015). WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. Journal of medical genetics, 52(11), 754–761. https://doi.org/10.1136/jmedgenet-2015-103069