×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
UniProt: the universal protein knowledgebase.
27899622
2017
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
CLINVAR
UniProt: the universal protein knowledgebase.
27899622
2017
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
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
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
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
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
27165009
2016
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
26956253
2016
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
CLINVAR
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
26788536
2016
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
CLINVAR
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
27311832
2016
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
27311832
2016
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.
27165009
2016
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
26788536
2016
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.
27342041
2016
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
26956253
2016
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.
27342041
2016
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
25599811
2015
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
25388907
2015
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
25599811
2015
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.
25108505
2015
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.
25108505
2015
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
25388907
2015
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
18792986
2008
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
18792986
2008
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.
16783566
2006
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.
16783566
2006
×
Entrez Id:
1387
Gene Symbol:
CREBBP
CREBBP
Dysmorphic features
0.100
CausalMutation
CLINVAR
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
15706485
2005