rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.
|
25108505 |
2015 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
UniProt: the universal protein knowledgebase.
|
27899622 |
2017 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.
|
10699051 |
2000 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.
|
12070251 |
2002 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
|
27165009 |
2016 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.
|
16783566 |
2006 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.
|
26603346 |
2016 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
|
15706485 |
2005 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
|
27311832 |
2016 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.
|
13983033 |
1963 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
|
26956253 |
2016 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
|
16021471 |
2005 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
|
26788536 |
2016 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
|
25388907 |
2015 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
|
25599811 |
2015 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
|
18792986 |
2008 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.
|
27342041 |
2016 |
rs1555478331
|
|
Multiple congenital anomalies
|
G |
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 |