Condition: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2


rs398122361 in DSE gene and EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 PMID 23704329 2013 Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.