English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint and skin laxity and tissue fragility (1). Dermatan 4-O-sulfotransferase-1 (D4ST1) deficiency, a recently delineated form of EDS caused by bi-allelic loss-offunction mutations in the carbohydrate sulfotransferase 14 gene (CHST14), is clinically characterized by multiple congenital malformations (craniofacial abnormalities, multiple congenital contractures, congenital heart/eye/ gastrointestinal defects) and progressive fragility-related manifestations (skin hyperextensibility and fragility, large subcutaneous haematomas, recurrent dislocations, progressive skeletal deformities) (2). Biochemical and pathological investigations on patients’ skin specimens suggest multisystem fragility caused by impaired assembly of collagen fibrils resulting from dermatan sulphate (DS) depletion in the decorin glycosaminoglycan (GAG) side chain (2). The disorder is currently called “EDS musculocontractural type 1” (MIM#601776) or “D4ST1-deficient EDS” (2). We report here a 45-yearold Japanese woman with the disorder.

A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing