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Article

A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.

Gene - 15 Aug 2015

Gagliardi Monica, Morelli Maurizio, Annesi Grazia, Nicoletti Giuseppe, Perrotta Paolo, Pustorino Giuseppe, Iannello Grazia, Tarantino Patrizia, Gambardella Antonio, Quattrone Aldo

Abstract excerpt

BACKGROUND: Primary familial brain calcification (PFBC) is a rare neurodegenerative disease characterized by bilateral calcifications mostly located in the basal ganglia and in the thalami, cerebellum and subcortical white matter. Clinical manifestations of this disease include a large spectrum of movement disorders and neuropsychiatric disturbances. PFBC is genetically heterogeneous and typically transmitted in...

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Source

Identifiers

PMID: 25958344
DOI: 10.1016/j.gene.2015.05.005

Genes

PDGFB
PDGFRB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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