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Article

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.

Journal of cellular physiology - 1 Mar 2018

Taglia Ilaria, Formichi Patrizia, Battisti Carla, Peppoloni Giulia, Barghigiani Melissa, Tessa Alessandra, Federico Antonio

Abstract excerpt

Primary familial brain calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications, and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB, and XPR1. In this study, we report molecular and clinical data of a PFBC patient carrying a novel SLC20A2 mutation and we investigate the impact of the mutation on PiT-2...

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Source

Identifiers

PMID: 28722801
DOI: 10.1002/jcp.26104

Genes

PDGFB
PDGFRB
XPR1

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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