Primary familial brain calcification in a patient with a novel compound heterozygous mutation in MYORG presenting with an acute ischemic stroke: a case report

Primary familial brain calcification (PFBC) is known as Fahr’s disease (FD) or familial idiopathic basal ganglia calcification (FIBGC). PFBC is a genetically heterogeneous disease characterized by extensive intracranial calcium deposition. Currently, pathogenic variants in six genes (SLC20A2, PDGFB,...

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Detalles Bibliográficos
Autores principales: Yang, Qijie, Li, Jian, Jiao, Bin, Weng, Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9073774/
https://www.ncbi.nlm.nih.gov/pubmed/35530931
http://dx.doi.org/10.21037/atm-21-4883

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9073774/
https://www.ncbi.nlm.nih.gov/pubmed/35530931
http://dx.doi.org/10.21037/atm-21-4883

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