Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type
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Open Access
- 9 March 2000
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 342 (10), 673-680
- https://doi.org/10.1056/nejm200003093421001
Abstract
Ehlers–Danlos syndrome type IV, the vascular type, results from mutations in the gene for type III procollagen (COL3A1). Affected patients are at risk for arterial, bowel, and uterine rupture, but the timing of these events, their frequency, and the course of the disease are not well documented.Keywords
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