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: Tags: Research article Source Type: research
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