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Vascular Ehlers-Danlos Syndrome.pdf

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Preview of Vascular Ehlers-Danlos Syndrome

🔗 Source: orbi.uliege.be

📊 Size: 369 KB

👤 Author: Makrygiannis, G., Loeys, B., Defraigne, J.-O., SAKALIHASAN, N.

⬇️ Downloads: 135

Summary

A young woman with cervical artery dissection (CeAD) was found to have a novel missense mutation in the COL3A1 gene, associated with vascular type Ehlers-Danlos syndrome (vEDS). The mutation, c.953G > A, disrupts the normal Gly-X-Y repeats of type III procollagen. The patient's family members, including her mother and maternal aunt, were also found to have the same mutation, with the aunt presenting with a type A aortic dissection. CeAD is a rare condition, and vEDS is a rare autosomal dominant disease with severe complications, including arterial fragility and rupture.

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Description

A young woman with cervical artery dissection (CeAD) was found to have a novel missense mutation in the COL3A1 gene, associated with vascular type...

Technical Information

File Format: PDF
File Size: 369 KB
Pages: 3
Language: EN
Author: Makrygiannis, G., Loeys, B., Defraigne, J.-O., SAKALIHASAN, N.
Total Downloads: 135
Last Updated: 1 month ago

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