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Article

Ehlers-Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database.

The Journal of dermatology - 1 Dec 2021

Shido Kosuke, Kojima Kaname, Yoshida-Akai Saaya, Kikuchi Katsuko, Hatamochi Atsushi, Aiba Setsuya, Yamasaki Kenshi

Abstract excerpt

A novel COL3A1 variant was identified in a Japanese case of Ehlers-Danlos syndrome type IV (EDS-IV) with a characteristic "Madonna" face, fragile uterus, and easy bruising in addition to a history of cavernous sinus fistula. We confirmed variable diameters of collagen fibrils in the dermis and decrease in type 3 collagen production from cultured fibroblasts. Genomic DNA sequencing of the COL3A1 region and COL3A1...

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PMID: 34453356
DOI: 10.1111/1346-8138.16131

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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