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A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant
Fahr’s disease, or primary familial brain calcification (PFBC), is a rare genetic neurologic disease characterized by abnormal calcification of the basal ganglia, subcortical white matter and cerebellum. Common clinical features include parkinsonism, neuropsychiatric symptoms, and cognitive decline....
Autores principales: | Al Ali, Jamal, Yang, Jessica, Phillips, Matthew S., Fink, Joseph, Mastrianni, James, Seibert, Kaitlin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10538541/ https://www.ncbi.nlm.nih.gov/pubmed/37780723 http://dx.doi.org/10.3389/fneur.2023.1235909 |
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