… One might consider screening the remaining patients for mutations in the EP300 gene;
however, very few mutations have been found. Because MLPA is so easy, one may consider …

… in CREBBP and EP300 genes. Pathogenic variants of the CREBBP gene were identified
in 50-70% of RSTS individuals [8,9,38,77], while mutations in the EP300 gene have been …

… We screened the entire CREB-binding protein gene (CBP) … EP300 gene and showed that
mutations in EP300 also cause this disorder. These are the first mutations identified in EP300 …

… the CREBBP gene, but recently, EP300 gene mutations were … EP300 genes) and genomic
sequencing (for the EP300 gene… sequencing of the CREBBP gene in a previous investigation. …

… Abnormalities in the EP300 gene are responsible for about 8–11… of the involvement of the
EP300 gene, initially compared CREBBP-… Subsequently, the description of patients with EP300 …

… RSTS-EP300-mutated cohort, this study indicates that EP300-… , the characterization of novel
EP300 mutations in RSTS patients … We examined the entire EP300 gene in a cohort of 33 …

… Schematic representation of p300 protein and EP300 gene, including their functional and
structural domains and their localization. Distribution of the variants found in EP300 gene in …

… , the genetic basis remains undetermined. Recently, we could demonstrate mutations in
the EP300 gene in a small number of patients with RSTS, thus proving genetic heterogeneity. …

… Causative mutations have been described in the CREBBP and EP300 genes. Here we
present a 19-year-old woman and an unrelated 3-year-old boy, both with broad thumbs and …

… in EP300. We report a male child with a deletion of exons 3–8 of the EP300 gene who has
… that has been described in other cases with EP300 mutations. The mother suffered from pre-…