Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Charlotte K LautrupKeng W TeikAi UnzakiShuji MizumotoDelfien SyxHeng H SinIrene K NielsenSara MarkholtShuhei YamadaFransiska MalfaitNaomichi MatsumotoNoriko MiyakeTomoki KoshoPublished in: Molecular genetics & genomic medicine (2020)
McEDS-DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS-CHST14. However, the burden of symptoms seems lower in patients with mcEDS-DSE.