1. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations. Issue 12 (20th September 2016) Authors: Fergelot, Patricia; Van Belzen, Martine; Van Gils, Julien; Afenjar, Alexandra; Armour, Christine M.; Arveiler, Benoit; Beets, Lex; Burglen, Lydie; Busa, Tiffany; Collet, Marie; Deforges, Julie; de Vries, Bert B. A.; Dominguez Garrido, Elena; Dorison, Nathalie; Dupont, Juliette; Francannet, Christ... Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3069 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗