ArticleMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2024
Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.
Article in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.European journal of human genetics : EJHG · 2026Pooled it
- Novel cardiac abnormalities observed in CAH patients with tenascin-X haploinsufficiency.Frontiers in endocrinology · 2026Article
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5 authors.
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Abstract
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 of the monogenic EDS types through text and photographs, to aid clinical diagnosis as despite the significant progress in genetic testing possibilities, a thorough clinical assessment which includes medical history, family history and physical examination remains important in the diagnostic process. In addition, in those cases where no molecular diagnosis is possible, a clinical diagnosis can still guide management and surveillance.
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