|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.
|
26708403 |
2016 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.
|
26249544 |
2015 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
|
25180280 |
2014 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Unilateral giant cell lesion of the jaw in Noonan syndrome.
|
25073238 |
2014 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway?
|
22551697 |
2012 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.
|
23165751 |
2012 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
|
21784453 |
2011 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
|
21387466 |
2011 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Noonan syndrome and clinically related disorders.
|
21396583 |
2011 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
|
19467855 |
2009 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.
|
19438935 |
2009 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype differences in cognitive functioning in Noonan syndrome.
|
19077116 |
2009 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
19020799 |
2008 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
|
18651097 |
2008 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
|
17143285 |
2007 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
|
17143282 |
2007 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
|
17586837 |
2007 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis.
|
17510059 |
2007 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
|
16773572 |
2006 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.
|
11868160 |
2002 |