A <i>de novo</i> variant of the <i>COL3A1</i> gene: causality of vascular Ehlers-Danlos syndrome

The variant detected in the <i>COL3A1</i> gene may support causality in the clinical context of this patient and contribute to improving therapeutic management in similar cases.

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Publication Details

Journal
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio
Published
2025-11-25
DOI
https://doi.org/10.1515/almed-2025-0172
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
0.00
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article

A de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome

Advances in Laboratory Medicine / Avances en Medicina de Laboratorio
Connective tissue disorders research
article

A de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome

article en

Abstract

The variant detected in the <i>COL3A1</i> gene may support causality in the clinical context of this patient and contribute to improving therapeutic management in similar cases.

Advances in Laboratory Medicine / Avances en Medicina de LaboratorioVol. 6(4)
Hospital Universitario Miguel Servet (ES)
Good health and well-being
Openalex Percentile: Top 31%
Connective tissue disorders research
DOIOpen Access PDFOpenAlex
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A <i>de novo</i> variant of the <i>COL3A1</i> gene: causality of vascular Ehlers-Danlos syndrome · Advances in Laboratory Medicine / Avances en Medicina de Laboratorio (2025) | TGRS Research Map | TGRS