De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
D.L. Polla, Elizabeth Bhoj, Joanne Verheij, Jolien S. Klein Wassink‐Ruiter, André Reis, Charu Deshpande, Anne Gregor, K. Hill-Karfe, Anneke T. Vulto‐van Silfhout, Rolph Pfundt, Ernie M.H.F. Bongers, Håkon Håkonarson, Siren Berland, Gyri Aasland Gradek, Siddharth Banka, Kate Chandler, Lianne Gompertz, Sophie C. Huffels, Constance T. R. M. Stumpel, R. Wennekes, Alexander P.A. Stegmann, William Reardon, Erika Leenders, Bert B.A. de Vries, D. Li, Elaine H. Zackai, Nicola Ragge, Sally Ann Lynch, Sanmati Cuddapah, Hans van Bokhoven, Christiane Zweier, Arjan P.M. de Brouwer
Topics & Concepts
Missense mutationGeneticsBiologyPhenotypeExonGeneRNA splicingNonsenseIntellectual disabilityRNAGenomics and Rare DiseasesGenomics and Chromatin DynamicsGenetics and Neurodevelopmental Disorders