|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.
|
25563136 |
2015 |
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A Novel SHOC2 Variant in Rasopathy.
|
25137548 |
2014 |
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.
|
24458587 |
2014 |
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
|
24458596 |
2014 |
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
|
23918763 |
2013 |
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
|
23918763 |
2013 |
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
|
22528146 |
2012 |
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
|
22528146 |
2012 |
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.
|
21548061 |
2011 |
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
|
19684605 |
2009 |
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
|
19684605 |
2009 |
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
|
19684605 |
2009 |
|
Noonan Syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
A recurrent activating mutation in SHOC2 (p.Ser2Gly) causes Mazzanti syndrome, a RASopathy characterized by features resembling Noonan syndrome and distinctive ectodermal abnormalities.
|
31059601 |
2019 |
|
Noonan Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.
|
24458587 |
2014 |
|
Noonan Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
|
24458596 |
2014 |
|
Noonan Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair.
|
23918763 |
2013 |
|
Noonan Syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair.
|
23918763 |
2013 |
|
Noonan Syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
The entire protein coding sequence of 9 genes implicated in Noonan syndrome and related conditions (PTPN11, SOS1, HRAS, KRAS, NRAS, BRAF, RAF1, MAP2K1, and MAP2K2), together with CBL (exons 8 and 9) and SHOC2 (4A>G), were screened for mutations.
|
22589294 |
2012 |
|
Noonan Syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
We report on a patient with Noonan syndrome due to SHOC2 missense mutation predicting p.Ser2Gly, recently described in association with Noonan syndrome.
|
22528146 |
2012 |
|
Noonan Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Clinical testing of genes causative of Noonan syndrome and related disorders detected the previously reported, pathogenic, de novo SHOC2 missense mutation predicting p.Ser2Gly.
|
22528146 |
2012 |
|
Noonan Syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome.
|
22419608 |
2012 |
|
Noonan Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
|
20882035 |
2010 |
|
Noonan Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
|
19684605 |
2009 |
|
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.
|
25846317 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.
|
25846317 |
2015 |