Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.
|
24336230 |
2014 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.
|
24336230 |
2014 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.
|
24336230 |
2014 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.
|
24145216 |
2013 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
CSF1R mutations link POLD and HDLS as a single disease entity.
|
23408870 |
2013 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.
|
24145216 |
2013 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.
|
23649896 |
2013 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.
|
23411710 |
2013 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.
|
23816250 |
2013 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
CSF1R mutations link POLD and HDLS as a single disease entity.
|
23408870 |
2013 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.
|
23816250 |
2013 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.
|
24145216 |
2013 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.
|
23649896 |
2013 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.
|
23411710 |
2013 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.
|
23649896 |
2013 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.
|
23816250 |
2013 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
CSF1R mutations link POLD and HDLS as a single disease entity.
|
23408870 |
2013 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.
|
23411710 |
2013 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
MRI characteristics and scoring in HDLS due to CSF1R gene mutations.
|
22843259 |
2012 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
MRI characteristics and scoring in HDLS due to CSF1R gene mutations.
|
22843259 |
2012 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Update of the original HDLS kindred: divergent clinical courses.
|
22098561 |
2012 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Update of the original HDLS kindred: divergent clinical courses.
|
22098561 |
2012 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
MRI characteristics and scoring in HDLS due to CSF1R gene mutations.
|
22843259 |
2012 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Update of the original HDLS kindred: divergent clinical courses.
|
22098561 |
2012 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
|
22197934 |
2011 |