|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
Two brothers with clinical features of CFC and mutations in BRAF (c.770A > G, p.Gln257Arg) are described.
|
29704308 |
2018 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
The perinatal presentation of cardiofaciocutaneous syndrome.
|
24719372 |
2014 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
|
0.810 |
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 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
To define the pathogenesis and to develop a potential therapeutic approach in CFC syndrome, we here generated new knockin mice (here Braf(Q241R/+)) expressing the Braf Q241R mutation, which corresponds to the most frequent mutation in CFC syndrome, Q257R.
|
25035421 |
2014 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
|
24775816 |
2013 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Single-molecule force measurement via optical tweezers reveals different kinetic features of two BRaf mutants responsible for cardio-facial-cutaneous (CFC) syndrome.
|
24409384 |
2013 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish.
|
22301711 |
2012 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
|
22495831 |
2012 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
|
21784453 |
2011 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
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 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
|
18854871 |
2009 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
|
18456719 |
2008 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
|
18413255 |
2008 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
|
17366577 |
2007 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
|
17551924 |
2007 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
We report the case of a 4-year-old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency.
|
17703371 |
2007 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
|
rs180177035
|
|
Cardio-facio-cutaneous syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |