Vascular Type of Ehlers–Danlos Syndrome – a Rare Monogenic Connective Tissue Disease

Vascular Type of Ehlers–Danlos Syndrome – a Rare Monogenic Connective Tissue Disease

The Ehlers-Danlos syndrome is a rare (orphan) disease characterized by the connective tissue dysplasia, fragility of the blood vessels and tissues, and variable clinical pattern. The vascular type of Ehlers-Danlos syndrome, which belongs to Group A according to the classification of 2017, is caused...

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Bibliographic Details
Main Authors: А. N. Semyachkina, E. А. Nikolaeva, I. S. Dantsev, L. P. Melikyan, M. S. Pavlova
Format: Article
Language:Russian
Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2021-01-01
Series:Rossijskij Vestnik Perinatologii i Pediatrii
Subjects:
children
ehlers–danlos syndrome
vascular type
col3a1 gene
mutation p.gly798_pro815del
diagnostic criteria
rupture of vessel walls
Online Access:https://www.ped-perinatology.ru/jour/article/view/1295

Internet

https://www.ped-perinatology.ru/jour/article/view/1295

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