Publications by authors named "Bruce R Rosenblum"
Article Synopsis
- * Researchers conducted tests using a mouse model with the EPAS1A529V mutation to examine vascular malformations through various imaging techniques and histological analyses.
- * Results indicated that patients and mutant mice exhibited a range of vascular malformations, with the patient vessels showing a higher presence of mutations compared to normal tissue, establishing vascular malformation as a new clinical characteristic of EPAS1 gain-of-function syndrome.
