The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain

Cerebral cavernous malformations (CCMs) are relatively common in the central nervous system. They occur in two forms, sporadic and familial (FCCMs). Three genes are recognized to be associated with FCCM, including CCM1, CCM2, and CCM3, the latter also called PDCD10. In this article, we describe a si...

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Detalles Bibliográficos
Autores principales: Szczygieł-Pilut, Elżbieta, Pilut, Daniel, Korostynski, Michal, Kopiński, Piotr, Potaczek, Daniel P., Wypasek, Ewa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454152/
https://www.ncbi.nlm.nih.gov/pubmed/37628586
http://dx.doi.org/10.3390/genes14081535

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454152/
https://www.ncbi.nlm.nih.gov/pubmed/37628586
http://dx.doi.org/10.3390/genes14081535

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