rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Tegumentary manifestations of Noonan and Noonan-related syndromes.
|
24037001 |
2013 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.
|
22876591 |
2012 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
|
20186801 |
2010 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.
|
19376813 |
2009 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
|
18470943 |
2008 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Neurological complications of cardio-facio-cutaneous syndrome.
|
18039235 |
2007 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
|
17366577 |
2007 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
|
17704260 |
2007 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |
rs180177040
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |