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A Homozygous Variant in NAA60 Is Associated with Primary Familial Brain Calcification

4 Sept 2024

Abstract excerpt

BACKGROUND: Primary familial brain calcification (PFBC) is a monogenic disorder characterized by bilateral calcifications in the brain. The genetic basis remains unknown in over half of the PFBC patients, indicating the existence of additional novel causative genes. NAA60 was a recently reported novel causative gene for PFBC. OBJECTIVE: The aim was to identify the probable novel causative gene in an autosomal...

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PMID: 39229657
DOI: 10.1002/mds.30004

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