Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient
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DOI: 10.1002/humu.24437
Abstract: Musculocontractural Ehlers–Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐DSE) is a rare connective tissue disorder. This is the first report describing the detailed and comprehensive clinical and pathophysiological features of mcEDS‐DSE. The patient, with… read more here.
Keywords: danlos syndrome; dermatan sulfate; ehlers danlos; mceds dse ... See more keywords
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome
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DOI: 10.3390/genes11010043
Abstract: Musculocontractural Ehlers–Danlos Syndome (mcEDS) is a type of EDS caused by biallelic pathogenic variants in the gene for carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase 1 (CHST14/D4ST1, mcEDS-CHST14), or in the gene for dermatan sulfate epimerase (DSE, mcEDS-DSE).… read more here.
Keywords: musculocontractural ehlers; skin; glycosaminoglycan chains; ehlers danlos ... See more keywords