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

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 <i>CCM1</i>, <i>CCM2</i>, and <i>CCM3</i>, the lat...

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Bibliographic Details
Main Authors: Elżbieta Szczygieł-Pilut, Daniel Pilut, Michal Korostynski, Piotr Kopiński, Daniel P. Potaczek, Ewa Wypasek
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Genes
Subjects:
cerebral cavernous malformation (CCM)
familial CCM (FCCM)
programmed cell death 10 gene (<i>PDCD10</i> gene
<i>CCM3</i> gene)
Online Access:https://www.mdpi.com/2073-4425/14/8/1535

Internet

https://www.mdpi.com/2073-4425/14/8/1535

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