| http://purl.uniprot.org/citations/24476420 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24476420 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24476420 | http://www.w3.org/2000/01/rdf-schema#comment | "Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two homologous transcriptional co-activators, have been identified in ˜55% and ˜3-5% of affected individuals, respectively. To date, only eight EP300-mutated RSTS patients have been described and 12 additional mutations are reported in the database LOVD. In this study, EP300 analysis was performed on 33 CREBBP-negative RSTS patients leading to the identification of six unreported germline EP300 alterations comprising one deletion and five point mutations. All six patients showed a convincing, albeit mild, RSTS phenotype with minor skeletal anomalies, slight cognitive impairment and few major malformations. Beyond the expansion of the RSTS-EP300-mutated cohort, this study indicates that EP300-related RSTS cases occur more frequently than previously thought (˜8% vs 3-5%); furthermore, the characterization of novel EP300 mutations in RSTS patients will enhance the clinical practice and genotype-phenotype correlations."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.12348"xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.12348"xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Scarano G."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Scarano G."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Selicorni A."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Selicorni A."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Colapietro P."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Colapietro P."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Gervasini C."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Gervasini C."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Larizza L."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Larizza L."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Magnani C."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Magnani C."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Milani D."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Milani D."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Negri G."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Negri G."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Rusconi D."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Rusconi D."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Spena S."xsd:string |
| http://purl.uniprot.org/citations/24476420 | http://purl.uniprot.org/core/author | "Spena S."xsd:string |