## Abstract Structural cardiovascular alterations in the classical and hypermobile forms of Ehlers–Danlos syndrome(EDS) warrant investigation. We have examined a cohort of 38 patients with hypermobile and classical EDSs using two‐dimensional echocardiography. The cohort includes 7 males and 31 fema
Molecular genetics in classic Ehlers–Danlos syndrome
✍ Scribed by Fransiska Malfait; Anne de Paepe
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 261 KB
- Volume
- 139C
- Category
- Article
- ISSN
- 1552-4868
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Ehlers-Danlos Syndrome (EDS) is a group of related genetic disorders of connective tissue presenting with joint hypermobility, skin extensibility, and tissue fragility. Although the pathophysiology of EDS is increasingly understood, the psychosocial effects of having EDS have not been examined. We p
## Abstract ## Objective Ehlers–Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Muscle involvement is plausible based on recently discovered inter
## Abstract We present two unrelated individuals with complete deficiency of tenascin‐X, resulting in an autosomal recessive form of Ehlers–Danlos syndrome (EDS). Consistent with the original description of tenascin‐X deficiency, these individuals had marked skin hyperextensibility, easy bruising,