Article

Developmental Venous Anomalies are a Genetic Primer for Cerebral Cavernous Malformations

2021-08-26

Abstract excerpt

Cerebral cavernous malformations (CCM) are a neurovascular anomaly that may occur sporadically in otherwise healthy individuals, or be inherited by autosomal dominant mutations in the genes that encode the proteins of the CCM signaling complex ( KRIT1, CCM2 , or PDCD10 ) 1–4 . CCMs have long been known to follow a genetic two-hit model where lesion formation is initiated by somatic mutations resulting in bialle...

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Literature Corpus work: dba4fc92-a65a-5b7e-b77e-4684dffff7b1
DOI: 10.1101/2021.08.25.457657

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