Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/24200
Title: First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
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Issue Date: 13-Dec-2016
Citation: BMC Med. Genet..2016 Dec;(17)1:97
Abstract: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% of cases, respectively. The majority of cases are de novo heterozygous mutations.
PMID: 27964710
URI: https://hdl.handle.net/20.500.12530/24200
Rights: openAccess
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. General U. Gregorio Marañón > Artículos

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