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Article

Primary familial brain calcifications: genetic and clinical update

6 Jun 2019

Abstract excerpt

PURPOSE OF REVIEW: In the last 7 years, changes in five genes [SLC20A2, PDGFRB, PDGFB, XPR1, and MYORG] have been implicated in the pathogenesis of primary familial brain calcification (PFBC), allowing for genetic delineation of this phenotypically complex neurodegenerative disorder. This review explores how the ensuing plethora of reported PFBC patients and their disease-causing variants improved our...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 31157644
DOI: 10.1097/wco.0000000000000712

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