Developmental Venous Anomalies are a Genetic Primer for Cerebral Cavernous Malformations
Daniel A. Snellings, Romuald Girard, Rhonda Lightle, Abhinav Srinath, Sharbel G. Romanos, Ying Li, Chang Chen, Aileen A. Ren, Mark L. Kahn, Issam A. Awad, Douglas A. Marchuk
The paper identifies PIK3CA mutations in developmental venous anomalies (DVA) and CCM, showing DVA act as a genetic primer for CCM through shared mutations.
Nature Cardiovascular Research · Mar 14, 2022Peer-reviewedGenetics