A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature
Primary familial brain calcification is a rare autosomal dominant or recessive neurodegenerative disease, characterized by bilateral brain calcifications in different areas of the brain. It is a clinically het...
Source: BMC Neurology - Category: Neurology Authors: Stine Westergaard Mathorne, Kristina S ørensen, Christina Fagerberg, Matthias Bode and Jens Michael Hertz Tags: Research article Source Type: research