Identification and Structural Characterization of a Novel COL3A1 Gene Duplication in a Family With Vascular Ehlers–Danlos Syndrome

Identification and Structural Characterization of a Novel COL3A1 Gene Duplication in a Family With Vascular Ehlers–Danlos Syndrome

ABSTRACT Background Vascular Ehlers–Danlos syndrome (vEDS) is caused by alterations in the COL3A1 gene, typically involving missense variants that replace glycine residues. In contrast, short in‐frame insertions, deletions, and duplications are rare and pose significant challenges for investigation....

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Main Authors: Gianmaria Miolo, Piernicola Machin, Marco De Conto, Sara Fortuna, Simona Viglio, Lara Della Puppa, Silvano Geremia, Giuseppe Corona
Format: Article
Language:English
Published: Wiley 2025-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
COL3A1 gene
collagen
duplication
genetic variant
metalloproteinase
vascular Ehlers–Danlos syndrome
Online Access:https://doi.org/10.1002/mgg3.70095
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https://doi.org/10.1002/mgg3.70095

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