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March 26, 2024Frontiers in MedicineOpen Access

Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers–Danlos syndrome

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Authors

VVValeria Valencia-CifuentesSSStiven Ernesto Sinisterra‐DíazVQValentina Quintana-Peña

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Cite This Study

Valencia-Cifuentes et al. (2024) studied this question.

synapsesocial.com/papers/68e7253fb6db64358769e901https://doi.org/10.3389/fmed.2024.1304168
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Postpartum Presentation of a Variant of Uncertain Significance in COL3A1: A Case Report2025
  2. 2A novel variant of Ehlers‐Danlos‐syndrome with <i>COL1A2</i> mutation2026
  3. 3Asymptomatic Pulmonary Involvement as the Initial Presentation of Vascular Ehlers-Danlos Syndrome with a Novel &lt;i&gt;COL3A1&lt;/i&gt; Frameshift Variant: A Case Report2026
  4. 4A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features2022 · 4 citations
  5. 5Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients2024 · 32 citations