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Article
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
(2015)
Disciplines
Publication Date
2015
Citation Information
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
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