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Article

A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients.

Chinese medical journal - 5 Apr 2018

Ding Yan, Dong Hui-Qing

Abstract excerpt

BACKGROUND: Idiopathic basal ganglia calcification (IBGC) is a genetic disorder characterized by bilateral basal ganglia calcification and neural degeneration. In this study, we reported a new SLC2OA2 mutation of IBGC and reviewed relevant literature to explore the association between phenotypes and genotypes in Chinese IBGC patients. METHODS: Clinical information of the proband and her relatives were collected...

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Identifiers

PMID: 29578123
DOI: 10.4103/0366-6999.228245
PMCID: PMC5887738

Genes

PDGFB

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Source receipt: pubmed, retrieved 7 Sept 2026.

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