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Published in 2022 at "Human Mutation"
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…
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Keywords:
danlos syndrome;
dermatan sulfate;
ehlers danlos;
mceds dse ... See more keywords
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Published in 2019 at "Genes"
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).…
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Keywords:
musculocontractural ehlers;
skin;
glycosaminoglycan chains;
ehlers danlos ... See more keywords