Article
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
American journal of medical genetics. Part A - 1 May 2023
Bolli Amber, Nriagu Bede, Britt Allison D, Toole Anjali D, Treat James, Srinivasan Abhay, Sheppard Sarah E
Abstract excerpt
Capillary malformations are slow-flow vascular malformations that affect the microcirculation including capillaries and post capillary venules and can be associated with growth differences. Specifically, the association of capillary malformations with undergrowth is a vastly understudied vascular syndrome with few reports of genetic causes including PIK3CA, GNAQ, and GNA11. Recently, a somatic pathogenic variant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.