De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

E Calpena, A Hervieu, T Kaserer, Sigrid Swagemakers, Jacqueline Goos, O Popoola, MJ Ortiz-Ruiz, T Barbaro-Dieber, L Bownass, EH Brilstra, E Brimble, N Foulds, TA Grebe, AVE Harder, MM Lees, K G Monaghan, RA Newbury-Ecob, KR Ong, D Osio, FJR SantosMRZ Ruzhnikov, A Telegrafi, E van Binsbergen, Marieke van Dooren, Peter van der Spek, J Blagg, SRF Twigg, Irene Mathijssen, PA Clarke, AOM Wilkie

Research output: Contribution to journalArticleAcademicpeer-review

39 Citations (Scopus)
12 Downloads (Pure)
Original languageUndefined/Unknown
Pages (from-to)709-720
Number of pages12
JournalAmerican Journal of Human Genetics
Volume104
Issue number4
DOIs
Publication statusPublished - 2019

Research programs

  • EMC MM-03-24-01

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