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Clinical diagnosis of the monogenic Ehlers-Danlos syndromes

29 Nov 2024

Abstract excerpt

Monogenic Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue conditions that are clinically characterised by joint hypermobility, skin hyperextensibility and/or fragility, and generalised tissue fragility. Gene panel testing with massively parallel sequencing is currently gold standard to confirm diagnoses of the monogenic EDS types. We aim to report on the (combination of) clinical features...

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PMID: 39629459
DOI: 10.1515/medgen-2024-2060

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