|
Costello syndrome (disorder)
|
|
0.810 |
GeneticVariation
|
BEFREE |
Patients with the HRAS mutation c.173C>T (p.T58I) might go undiagnosed because of the milder phenotype compared with other mutations causing Costello syndrome.
|
26888048 |
2016 |
|
Costello syndrome (disorder)
|
|
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 |
|
Costello syndrome (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
|
23321623 |
2013 |
|
Costello syndrome (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.
|
22488832 |
2012 |
|
Costello syndrome (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
|
20949621 |
2011 |
|
Costello syndrome (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.
|
20112233 |
2010 |
|
Costello syndrome (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
|
19995790 |
2010 |
|
Costello syndrome (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
Costello syndrome (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
|
Costello syndrome (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
|
18247425 |
2008 |
|
Costello syndrome (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
Costello syndrome (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
Costello syndrome (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
Costello syndrome (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Germline KRAS mutations cause Noonan syndrome.
|
16474405 |
2006 |
|
Costello syndrome (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.
|
16921267 |
2006 |
|
Costello syndrome (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
Hypertrophic obstructive cardiomyopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
The patient with hypertrophic cardiomyopathy and normal cognitive development was diagnosed with an HRAS mutation c.173C>T (p.T58I), a milder variant of Costello syndrome affecting a highly conserved amino acid, threonine 58.
|
26888048 |
2016 |
|
Hypertrophic Cardiomyopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
The patient with hypertrophic cardiomyopathy and normal cognitive development was diagnosed with an HRAS mutation c.173C>T (p.T58I), a milder variant of Costello syndrome affecting a highly conserved amino acid, threonine 58.
|
26888048 |
2016 |
|
Macrocephaly
|
|
0.010 |
GeneticVariation
|
BEFREE |
We reviewed the phenotype in the newly identified individuals (Patient 1, 2) and include updated information on the first previously reported individual with HRAS p.T58I (Patient 3).Macrocephaly was present in all three.
|
22488832 |
2012 |