rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
|
27648933 |
2016 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
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 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
|
27964710 |
2016 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
|
27465822 |
2016 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
|
24476420 |
2015 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
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 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
|
25712426 |
2015 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
|
24352918 |
2014 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.
|
20717166 |
2011 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.
|
20014264 |
2010 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
|
19353645 |
2009 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
|
18792986 |
2008 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
|
17220215 |
2007 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.
|
17299436 |
2007 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Conditional knockout mice reveal distinct functions for the global transcriptional coactivators CBP and p300 in T-cell development.
|
16428436 |
2006 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
|
15706485 |
2005 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
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 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.
|
11331617 |
2001 |
rs1555907749
|
|
Multiple congenital anomalies
|
AT |
0.700 |
CausalMutation
|
CLINVAR |
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
|
13983033 |
1963 |