Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant

OBJECTIVE: To describe a family with primary familial brain calcifications (PFBCs) and leukoencephalopathy associated with a novel variant in PDGFB. METHODS: We present 3 generations of a family with PFBC associated with a previously unreported variant in PDGFB. RESULTS: A 24-year-old woman with mig...

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Detalles Bibliográficos
Autores principales: Shen, Jack, Shillington, Amelle, Espay, Alberto J., Hill, Emily J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9210546/
https://www.ncbi.nlm.nih.gov/pubmed/35747618
http://dx.doi.org/10.1212/NXG.0000000000200001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9210546/
https://www.ncbi.nlm.nih.gov/pubmed/35747618
http://dx.doi.org/10.1212/NXG.0000000000200001

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