@article{5ea69eebab2d42adbbf29577d1c21ded,
title = "WAC loss-of-function Mutations Cause a Recognisable Syndrome Characterised by Dysmorphic Features, Developmental Delay and Hypotonia and Recapitulate 10p11.23 Microdeletion Syndrome",
author = "Arelis Martir-Negron and \{and institutional affiliations\}, \{Additional authors\}",
note = "Our case series show that loss-of-function mutations in WAC cause a recognisable genetic syndrome characterised by a neurocognitive phenotype and facial dysmorphism. Our data highly suggest that WAC haploinsufficiency is responsible for most of the phenotypic features associated with deletions encom ... 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",
year = "2015",
language = "American English",
volume = "52",
journal = "Journal of Medical Genetics",
}