Title : Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.

Pub. Date : 2020 May

PMID : 32130795






1 Functional Relationships(s)
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1 BACKGROUND: Musculocontractural Ehlers-Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE (mcEDS-DSE), both of which result in defective dermatan sulfate biosynthesis. Dermatan Sulfate carbohydrate sulfotransferase 14 Homo sapiens