×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
0.310
GermlineCausalMutation
disease
ORPHANET
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
24892279
2014
×
Entrez Id:
3981
Gene Symbol:
LIG4
LIG4
0.310
GeneticVariation
disease
BEFREE
These data suggests that at least subset of Dubowitz syndrome can be attributed to DNA ligase IV mutations.
23372718
2013
×
Entrez Id:
54888
Gene Symbol:
NSUN2
NSUN2
0.310
GermlineCausalMutation
disease
ORPHANET
Our findings establish NSUN2 as the first causal gene with relationship to the DS spectrum phenotype.
22577224
2012
×
Entrez Id:
54888
Gene Symbol:
NSUN2
NSUN2
0.310
Biomarker
disease
BEFREE
Our findings establish NSUN2 as the first causal gene with relationship to the DS spectrum phenotype.
22577224
2012
×
Entrez Id:
6016
Gene Symbol:
RIT1
RIT1
0.200
Biomarker
disease
MGD
New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.
30898653
2019
×
Entrez Id:
8216
Gene Symbol:
LZTR1
LZTR1
0.200
Biomarker
disease
MGD
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
30442762
2018
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.200
Biomarker
disease
MGD
K-RasV14I recapitulates Noonan syndrome in mice.
25359213
2014
×
Entrez Id:
5894
Gene Symbol:
RAF1
RAF1
0.200
Biomarker
disease
MGD
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
22826437
2012
×
Entrez Id:
5894
Gene Symbol:
RAF1
RAF1
0.200
Biomarker
disease
MGD
MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1(L613V) mutation.
21339642
2011
×
Entrez Id:
6654
Gene Symbol:
SOS1
SOS1
0.200
Biomarker
disease
MGD
Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.
21041952
2010
×
Entrez Id:
5781
Gene Symbol:
PTPN11
PTPN11
0.200
Biomarker
disease
MGD
Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.
15273746
2004
×
Entrez Id:
55835
Gene Symbol:
CENPJ
CENPJ
0.200
Biomarker
disease
MGD
×
Entrez Id:
80254
Gene Symbol:
CEP63
CEP63
0.200
Biomarker
disease
MGD
×
Entrez Id:
545
Gene Symbol:
ATR
ATR
0.200
Biomarker
disease
MGD
×
Entrez Id:
5361
Gene Symbol:
PLXNA1
PLXNA1
0.010
GeneticVariation
disease
BEFREE
Here, we report a male presenting with infantile onset epilepsy and syndromic features resembling Dubowitz syndrome identified to have a de novo PLXNA1 variant by whole exome sequencing.
28464511
2017