Variant: rs917027829 

    present in Gene: CSF1R
    present in Chromosome: 5
    Position on Chromosome: 150069942
    Alleles of this Variant: G/A;T

rs917027829 in CSF1R gene and Dysmorphic features PMID 23816250 2013 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

PMID 23649896 2013 Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

PMID 24145216 2013 CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

PMID 22098561 2012 Update of the original HDLS kindred: divergent clinical courses.

PMID 19487654 2009 Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

PMID 6595937 1984 Hereditary diffuse leucoencephalopathy with spheroids.

PMID 8981357 1997 Biology and action of colony--stimulating factor-1.

PMID 23411710 2013 Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

PMID 24336230 2014 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 18794495 2008 Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

PMID 23408870 2013 CSF1R mutations link POLD and HDLS as a single disease entity.

PMID 22843259 2012 MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

rs917027829 in CSF1R gene and Movement Disorders PMID 23816250 2013 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

PMID 23649896 2013 Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

PMID 24336230 2014 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

PMID 8981357 1997 Biology and action of colony--stimulating factor-1.

PMID 6595937 1984 Hereditary diffuse leucoencephalopathy with spheroids.

PMID 24145216 2013 CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

PMID 23408870 2013 CSF1R mutations link POLD and HDLS as a single disease entity.

PMID 19487654 2009 Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

PMID 23411710 2013 Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

PMID 18794495 2008 Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

PMID 22843259 2012 MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 22098561 2012 Update of the original HDLS kindred: divergent clinical courses.

rs917027829 in CSF1R gene and Multiple congenital anomalies PMID 22843259 2012 MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

PMID 23649896 2013 Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 18794495 2008 Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

PMID 19487654 2009 Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

PMID 24145216 2013 CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

PMID 22098561 2012 Update of the original HDLS kindred: divergent clinical courses.

PMID 23408870 2013 CSF1R mutations link POLD and HDLS as a single disease entity.

PMID 23411710 2013 Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

PMID 23816250 2013 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

PMID 24336230 2014 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

PMID 8981357 1997 Biology and action of colony--stimulating factor-1.

PMID 6595937 1984 Hereditary diffuse leucoencephalopathy with spheroids.