Associated Papers
A novel variant in the DSE gene leads to Ehlers-Danlos musculocontractural type 2 in a Pakistani family.
Ullah I et al.
Congenital Anomalies, 2021
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Lautrup CK et al.
Molecular Genetics & Genomic Medicine, 2020
Select a paper to view details