A novel variant of Ehlers‐Danlos‐syndrome with COL1A2 mutation

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

1. 1A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features2022 · 4 citations
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4. 4Asymptomatic Pulmonary Involvement as the Initial Presentation of Vascular Ehlers-Danlos Syndrome with a Novel COL3A1 Frameshift Variant: A Case Report2026
5. 5Presymptomatic genetic analysis during pregnancy for vascular type Ehlers–Danlos syndrome2014 · 4 citations