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Article

Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.

American journal of medical genetics. Part A - 1 Sept 2022

Yagi Hiroki, Takeda Norifumi, Amiya Eisuke, Akiyama Nana, Chang Hyangri, Ishiura Hiroyuki, Sato Jiro, Akazawa Hiroshi, Morita Hiroyuki, Komuro Issei

Abstract excerpt

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant genetic disorder characterized by soft connective tissue vulnerability due to dysfunction of Type III collagen and caused by the pathogenic variants in COL3A1 gene. In the era of next-generation sequencing, multiple genes including COL3A1 can be simultaneously analyzed, and among patients suffering from aortopathy even without any other clinical...

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PMID: 35543214
DOI: 10.1002/ajmg.a.62774

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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