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.