Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Primary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as auto...

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Detalles Bibliográficos
Autores principales: Magistrelli, Luca, Croce, Roberta, De Marchi, Fabiola, Basagni, Chiara, Carecchio, Miryam, Nasuelli, Nicola, Cantello, Roberto, Invernizzi, Federica, Garavaglia, Barbara, Comi, Cristoforo, Mazzini, Letizia, D’Alfonso, Sandra, Corrado, Lucia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997821/
https://www.ncbi.nlm.nih.gov/pubmed/33471268
http://dx.doi.org/10.1007/s10048-021-00634-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997821/
https://www.ncbi.nlm.nih.gov/pubmed/33471268
http://dx.doi.org/10.1007/s10048-021-00634-9

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