Article
Hypermobile Ehlers-Danlos syndrome: A review and a critical appraisal of published genetic research to date.
Clinical genetics - 1 Jan 2022
Scicluna Kirsty, Formosa Melissa M, Farrugia Rosienne, Borg Isabella
Abstract excerpt
The Ehlers-Danlos syndromes (EDS) are a collection of rare hereditary connective tissue disorders with heterogeneous phenotypes, usually diagnosed following clinical examination and confirmatory genetic testing. Diagnosis of the commonest subtype, hypermobile Ehlers-Danlos Syndrome (hEDS), relies solely on a clinical diagnosis since its molecular aetiology remains unknown. We performed an up-to-date literature...
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