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Article

Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology.

Human mutation - 1 Aug 2014

Sanchez-Contreras Monica, Baker Matthew C, Finch NiCole A, Nicholson Alexandra, Wojtas Aleksandra, Wszolek Zbigniew K, Ross Owen A, Dickson Dennis W, Rademakers Rosa

Abstract excerpt

Three causal genes for idiopathic basal ganglia calcification (IBGC) have been identified. Most recently, mutations in PDGFRB, encoding a member of the platelet-derived growth factor receptor family type β, and PDGFB, encoding PDGF-B, the specific ligand of PDGFRβ, were found implicating the PDGF-B/PDGFRβ pathway in abnormal brain calcification. In this study, we aimed to identify and study mutations in PDGFRB...

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Source

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Identifiers

PMID: 24796542
DOI: 10.1002/humu.22582
PMCID: PMC4107018

Genes

PDGFRB
PDGFB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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