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

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 of neur...

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Detalles Bibliográficos
Autores principales: Mathorne, Stine Westergaard, Sørensen, Kristina, Fagerberg, Christina, Bode, Matthias, Hertz, Jens Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460731/
https://www.ncbi.nlm.nih.gov/pubmed/30979360
http://dx.doi.org/10.1186/s12883-019-1292-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6460731/
https://www.ncbi.nlm.nih.gov/pubmed/30979360
http://dx.doi.org/10.1186/s12883-019-1292-8

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