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.
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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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