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  1. Article

    Open Access

    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...

    Stine Westergaard Mathorne, Kristina Sørensen, Christina Fagerberg… in BMC Neurology (2019)

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