Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewed
Early Diagnosis of Vascular Ehlers-Danlos Syndrome Through AI-Powered Facial Analysis: Results from the Montalcino Aortic Consortium
David R. Murdock, Adarsh Suresh, Ernesto Calderón Martinez…·Dianna M. Milewicz
The paper develops an AI facial analysis model to diagnose vascular Ehlers-Danlos syndrome (vEDS) using facial images, achieving high accuracy in distinguishing vEDS from controls and hypermobile EDS.