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The Genetic and Phenotypic Spectrum of Primary Brain Calcification in a Large Cohort from China

19 Apr 2025

Abstract excerpt

BACKGROUND: Primary brain calcification (PBC) is a monogenic inherited disease characterized by calcifications in basal ganglia and other brain regions, with seven causative genes identified and highly heterogeneous genetic and phenotypic spectrum. OBJECTIVE: The objective was to update the genetic and phenotypic spectrum of PBC in a large cohort from China. METHODS: Five hundred eighty-four PBC families were...

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PMID: 40251908
DOI: 10.1002/mds.30207

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