Features of Musculocontractural EDS Described for 1st Time in Study

Features of Musculocontractural EDS Described for 1st Time in Study

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Features of Musculocontractural EDS Described for 1st Time in Study

An international study involving the largest group of patients worldwide, to date, has for the first time detailed clinical and molecular features of the rare musculocontractural form of Ehlers−Danlos (EDS) syndrome. This form of the condition is characterized by several malformations and progressive fragility-related symptoms, the study reported. Titled “Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14),” the study was published in the Journal of…

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