- Genes considered secondary within the Ehlers-Danlos syndrome panel are those involved in other connective tissue diseases that predispose to the development of vascular dilatation and/or rupture events.
- Among the relevant pathologies for the differential diagnosis of Ehlers-Danlos syndromes are connective tissue diseases and aortopathies (such as Marfan, Loeys-Dietz, Shprintzen-Goldberg, and arterial tortuosity syndromes, among others), cutis laxa syndromes (type 1B, associated with defects in the EFEMP2 gene), and syndromes associated with genetic defects in the FLNA and ATP7A genes.
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