Additional Metadata
Keywords CDK8, kinase, Mediator complex, hypotonia, de novo mutation, intellectual disability, behavioral disorder, congenital heart disease, dominant negative, Mediator kinase modulopathy
Persistent URL dx.doi.org/10.1016/j.ajhg.2019.02.006, hdl.handle.net/1765/116335
Journal American Journal of Human Genetics
Citation
Calpena, E., Hervieu, A., Kaserer, T., Swagemakers, S.M.A, Goos, J.A.C, Popoola, O., … Wilkie, A.O.M. (2019). De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. American Journal of Human Genetics, 104(4), 709–720. doi:10.1016/j.ajhg.2019.02.006