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Last Updated: 10/31/2025
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Found 34 publications
Hypovolemic shock due to massive subcutaneous hemorrhage in a patient with musculocontractural Ehlers-Danlos syndrome (mcEDS).
Journal: Wiener klinische Wochenschrift
Published: May 26, 2025
Segmented ring-mesh model of glycosaminoglycan chains based on the 3D analysis of normal individual and musculocontractural Ehlers-Danlos syndrome skin using scanning transmission electron microscopy.
Journal: Microscopy (Oxford, England)
Published: December 30, 2024
Carbohydrate sulfotransferase 14 gene deletion induces dermatan sulfate deficiency and affects collagen structure and bowel contraction.
Journal: PloS one
Published: December 10, 2024
Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report.
Journal: Gynecologic oncology reports
Published: November 25, 2024
Musculocontractural type of Ehlers-Danlos syndrome with novel CHST14 pathogenic variant in two siblings.
Journal: Pediatric dermatology
Published: December 08, 2023
Otological Features of Patients with Musculocontractural Ehlers-Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14).
Journal: Genes
Published: May 14, 2023
Pathophysiological Investigation of Skeletal Deformities of Musculocontractural Ehlers-Danlos Syndrome Using Induced Pluripotent Stem Cells.
Journal: Genes
Published: January 31, 2023
Histories of Dermatan Sulfate Epimerase and Dermatan 4-O-Sulfotransferase from Discovery of Their Enzymes and Genes to Musculocontractural Ehlers-Danlos Syndrome.
Journal: Genes
Published: January 11, 2023
Mouse Models of Musculocontractural Ehlers-Danlos Syndrome.
Journal: Genes
Published: December 28, 2022
Last Updated: 10/31/2025