Case report: Mild phenotype of a patient with vascular Ehlers–Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence

Case report: Mild phenotype of a patient with vascular Ehlers–Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence

Background: Vascular-type Ehlers–Danlos syndrome (vEDS) is an autosomal dominant inherited disorder caused by a deficit in collagen III as a result of heterogeneous mutations in the α1 type III collagen gene (COL3A1). Patients with vEDS often experience the first major complications in their early 2...

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Bibliographic Details
Main Authors: Shujiro Hayashi, Tomomi Yamaguchi, Tomoki Kosho, Ken Igawa
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Genetics
Subjects:
Vascular Ehlers–Danlos syndrome
COL3A1
triplet repeat sequence
endoplasmic reticulum stress
unfolded protein response
in-frame mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1017446/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.1017446/full

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