Identification and Structural Characterization of a Novel <i>COL3A1</i> Gene Duplication in a Family With Vascular Ehlers–Danlos Syndrome
This study highlights the pathogenic role of a novel in-frame duplication in the COL3A1 gene, demonstrating how this seemingly benign alteration significantly compromises collagen turnover and contributes to the development of vEDS.
Authors
- Silvano Geremia (ORCID: https://orcid.org/0000-0002-0711-5113)
- Lara Della Puppa (ORCID: https://orcid.org/0000-0001-8235-5582)
- Gianmaria Miolo (ORCID: https://orcid.org/0000-0001-5084-295X)
- Sara Fortuna (ORCID: https://orcid.org/0000-0002-8059-6064)
- Simona Viglio (ORCID: https://orcid.org/0000-0001-5020-478X)
- Piernicola Machin
- Giuseppe Corona (ORCID: https://orcid.org/0000-0003-3619-7709)
- Marco De Conto (ORCID: https://orcid.org/0009-0008-9012-7158)
Institutions
- University of Trieste (IT)
- University of Pavia (IT)
- Centro di Riferimento Oncologico (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1002/mgg3.70095
- Citations
- 3
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- Alternatives Research and Development Foundation
- Associazione Italiana per la Ricerca sul Cancro