Article

Early Diagnosis of Vascular Ehlers-Danlos Syndrome Through AI-Powered Facial Analysis: Results from the Montalcino Aortic Consortium

2024-10-22

Abstract excerpt

<h4>Purpose</h4> Vascular Ehlers-Danlos syndrome (vEDS), caused by COL3A1 pathogenic variants, is a rare heritable aortic and arterial disorder associated with early mortality, mainly due to spontaneous vascular dissections and ruptures. Improved methods for diagnosing vEDS are needed so that guideline-based management can be initiated to prevent deadly complications and differentiate vEDS from overlapping conditi...

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Literature Corpus work: 9422c0fc-e282-5fb5-9b4c-ea3272bad683
DOI: 10.1101/2024.10.20.24315773

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