A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

Abstract Background Primary familial brain calcification is a rare autosomal dominant or recessive neurodegenerative disease, characterized by bilateral brain calcifications in different areas of the brain. It is a clinically heterogeneous disease and patients are reported to exhibit a wide spectrum...

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Bibliographic Details
Main Authors: Stine Westergaard Mathorne, Kristina Sørensen, Christina Fagerberg, Matthias Bode, Jens Michael Hertz
Format: Article
Language:English
Published: BMC 2019-04-01
Series:BMC Neurology
Subjects:
PDGFRB
Fahr syndrome
Primary familial brain calcification
Online Access:http://link.springer.com/article/10.1186/s12883-019-1292-8

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