Delineation of musculocontractural Ehlers –Danlos Syndrome caused by dermatan sulfate epimerase deficiency

ConclusionMcEDS ‐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.

Source: Molecular Genetics & Genomic Medicine - March 5, 2020 Category: Genetics & Stem Cells Authors: Charlotte K. Lautrup, Keng W. Teik, Ai Unzaki, Shuji Mizumoto, Delfien Syx, Heng H. Sin, Irene K. Nielsen, Sara Markholt, Shuhei Yamada, Fransiska Malfait, Naomichi Matsumoto, Noriko Miyake, Tomoki Kosho Tags: ORIGINAL ARTICLE Source Type: research