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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...
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