Tag Archive: COL1-related

COL1-related overlap disorder: Recent published paper

There are currently 14 subtypes of Ehlers-Danlos syndromes (EDS). In 13 of these (i.e. all except the hypermobile subtype), the diagnosis is confirmed by the combination of clinical features, and the identification of a mutation in corresponding disease-genes. Among them, the current classification identifies 3 subtypes of EDS that are associated with mutations in the
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