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Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200001
Abstract: Objective To describe a family with primary familial brain calcifications (PFBCs) and leukoencephalopathy associated with a novel variant in PDGFB. Methods We present 3 generations of a family with PFBC associated with a previously unreported…
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Keywords:
calcifications leukoencephalopathy;
basal ganglia;
familial brain;
brain calcifications ... See more keywords