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White matter involvement in a family with a novel PDGFB mutation
- Source :
- Neurology: Genetics
- Publication Year :
- 2016
-
Abstract
- Primary familial brain calcification (PFBC) (formerly idiopathic basal ganglia calcification; Fahr disease) is an autosomal dominant cerebral microvascular calcifying disorder with variable clinical and imaging features.(1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5).
- Subjects :
- 0301 basic medicine
Fahr disease
Pathology
medicine.medical_specialty
PDGFRB
Basal ganglia calcification
medicine.disease_cause
White matter
03 medical and health sciences
0302 clinical medicine
medicine
Clinical/Scientific Notes
Genetics (clinical)
Mutation
PDGFB
business.industry
medicine.disease
030104 developmental biology
medicine.anatomical_structure
Neurology (clinical)
business
030217 neurology & neurosurgery
Calcification
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Neurology: Genetics
- Accession number :
- edsair.doi.dedup.....a0bf107871a143133a312bba6d4c9eca