Condition: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
rs397509381
in
PDGFRB
gene and
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
PMID 23255827
2013 Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
PMID 26599395
2015 Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.
PMID 24065723
2013 Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.