Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

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Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/37549

Title:	Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
Authors:	López, María García-Oguiza, Alberto Armstrong, Judith García-Cobaleda, Inmaculada García-Miñaur, Sixto Santos-Simarro, Fernando Seidel, Verónica Domínguez-Garrido, Elena View more
Keywords:	Broad thumbs EP300 EP300-RSTS-phenotype EP300-Rubinstein-Taybi EP300-mutations Intellectual disability RSTS RSTS-2 View more
Mesh:	Adolescent CREB-Binding Protein Child Child, Preschool Codon, Nonsense Cohort Studies E1A-Associated p300 Protein Female Frameshift Mutation Genetic Association Studies Genetic Testing Humans Infant Male Mutation, Missense Phenotype RNA Splicing Rubinstein-Taybi Syndrome Sequence Deletion Young Adult View more
Issue Date:	2018
Citation:	BMC Med. Genet..2018 03;(19)1:36
Abstract:	Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and molecular characterization of a cohort of RSTS patients carrying EP300 mutations.
PMID:	29506490
URI:	https://hdl.handle.net/20.500.12530/37549
Rights:	openAccess
Appears in Collections:	Fundaciones e Institutos de Investigación > IIS H. General U. Gregorio Marañón > Artículos

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