2 results match your criteria: "Medical University Innsbruck Institute of Human Genetics Peter-Mayr-Str. 1 6020 Innsbruck Austria.[Affiliation]"
Article Synopsis
- The Ehlers-Danlos syndromes (EDS) are a group of genetically diverse disorders marked by varying levels of joint hypermobility, skin hyperextensibility, and connective tissue fragility, with 13 recognized types based on clinical features.
- Twelve of these types are linked to specific genetic mutations in 21 confirmed genes, but hypermobile EDS (hEDS) does not have a clear genetic cause and can't be diagnosed through genetic testing.
- The text also discusses the clinical features and molecular bases of the monogenic types, the diagnostic challenges faced, and advises when genetic testing is appropriate.
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.
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