×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
27648933
2016
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
26486927
2016
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
27465822
2016
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
27964710
2016
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
24476420
2015
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.
26279656
2015
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
25712426
2015
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
24352918
2014
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.
20717166
2011
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.
20014264
2010
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
19353645
2009
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
18792986
2008
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.
17299436
2007
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
17220215
2007
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Conditional knockout mice reveal distinct functions for the global transcriptional coactivators CBP and p300 in T-cell development.
16428436
2006
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
15706485
2005
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.
12114483
2002
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.
11331617
2001
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Dysmorphic features
0.100
CausalMutation
CLINVAR
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
13983033
1963