Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Conclusion This first international collaborative study of mcEDS-CHST14 demonstrated that the subtype represents a multisystem disorder with unique set of clinical phenotypes consisting of multiple malformations and progressive fragility-related manifestations; these require lifelong, multidisciplinary healthcare approaches.

http://jmg.bmj.com/cgi/content/short/59/9/865?rss=1

Source: Journal of Medical Genetics - August 19, 2022 Category: Genetics & Stem Cells Authors: Minatogawa, M., Unzaki, A., Morisaki, H., Syx, D., Sonoda, T., Janecke, A. R., Slavotinek, A., Voermans, N. C., Lacassie, Y., Mendoza-Londono, R., Wierenga, K. J., Jayakar, P., Gahl, W. A., Tifft, C. J., Figuera, L. E., Hilhorst-Hofstee, Y., Maugeri, A., Tags: Open access Phenotypes Source Type: research