Single-nucleus DNA sequencing reveals hidden somatic loss-of-heterozygosity in Cerebral Cavernous Malformations

Abstract Cerebral Cavernous Malformations (CCMs) are vascular malformations of the central nervous system which can lead to moderate to severe neurological phenotypes in patients. A majority of CCM lesions are driven by a cancer-like three-hit mutational mechanism, including a somatic, activating mu...

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Bibliographic Details
Main Authors: Andrew K. Ressler, Daniel A. Snellings, Romuald Girard, Carol J. Gallione, Rhonda Lightle, Andrew S. Allen, Issam A. Awad, Douglas A. Marchuk
Format: Article
Language:English
Published: Nature Portfolio 2023-11-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-023-42908-w