Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB

Neurology. 2015 Apr 28;84(17):1818-20. doi: 10.1212/WNL.0000000000001517. Epub 2015 Apr 1.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Basal Ganglia Diseases / genetics
  • Basal Ganglia Diseases / pathology
  • Basal Ganglia Diseases / physiopathology*
  • Calcinosis / genetics
  • Calcinosis / pathology
  • Calcinosis / physiopathology*
  • Female
  • Genes, sis / genetics*
  • Humans
  • Middle Aged
  • Phenotype
  • Young Adult