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Article

Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.

Journal of human genetics - 1 Jul 2017

Wang Chong, Yao Xiang-Ping, Chen Hai-Ting, Lai Jing-Hui, Guo Xin-Xin, Su Hui-Zhen, Dong En-Lin, Zhang Qi-Jie, Wang Ning, Chen Wan-Jin

Abstract excerpt

Four causative genes, including solute carrier family 20 member 2 (SLC20A2), platelet-derived growth factor receptor b (PDGFRB), platelet-derived growth factor b (PDGFB)and xenotropic and polytropic retrovirus receptor 1 (XPR1), have been identified to cause primary familial brain calcification (PFBC). However, PDGFRB mutations seem to be quite rare and no PDGFRB mutations have been reported in Chinese PFBC...

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Identifiers

PMID: 28298627
DOI: 10.1038/jhg.2017.25

Genes

PDGFRB
PDGFB
XPR1

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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