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A heterozygous deletion of PDGFB gene causes paroxysmal kinesigenic dyskinesia with primary familial brain calcification.

Parkinsonism & related disorders - 1 Nov 2021

Duan Ruo-Nan, Zhao Dan-Dan, Liu Yi-Ming, Yan Chuan-Zhu

Abstract excerpt

BACKGROUND: Primary familial brain calcification (PFBC) is a neurodegenerative disease characterized with calcium deposition in multiple brain regions. Mutations in PDGFB have been discovered in sporadic and familial PFBC cases. While several known variants displayed loss-of function, no complete deletion of platelet-derived growth factor B (PDGFB) has been reported. METHODS: For the diagnostic purpose, brain...

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PMID: 34736156
DOI: 10.1016/j.parkreldis.2021.10.021

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