Article
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
American journal of medical genetics. Part A - 1 Dec 2016
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 Christine, Garciá-Minaúr Sixto, Gabau Vila Elisabeth, Gebre-Medhin Samuel, Gener Querol Blanca, Geneviève David, Gérard Marion, Gervasini Cristina Giovanna, Goldenberg Alice, Josifova Dragana, Lachlan Katherine, Maas Saskia, Maranda Bruno, Moilanen Jukka S, Nordgren Ann, Parent Philippe, Rankin Julia, Reardon Willie, Rio Marlène, Roume Joëlle, Shaw Adam, Smigiel Robert, Sojo Amaia, Solomon Benjamin, Stembalska Agnieszka, Stumpel Constance, Suarez Francisco, Terhal Paulien, Thomas Simon, Touraine Renaud, Verloes Alain, Vincent-Delorme Catherine, Wincent Josephine, Peters Dorien J M, Bartsch Oliver, Larizza Lidia, Lacombe Didier, Hennekam Raoul C
Abstract excerpt
Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8-10% of clinically diagnosed cases. Both paralogs act in chromatin remodeling and encode for transcriptional co-activators interacting with >400 proteins. Up to now...
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