USMLE (Fach) / Biochemistry - Genetics (Lektion)
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Ehlers-Danlos syndrome
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- faulty collagen synthesis causing hyperextensible skin, tendency to bleed, hypermobile joints
- associated with joint dislocation, berry and aortic aneurysms, organ rupture
- Hypermobility type (joint instability): most common- Classical type (joint and skin symptoms): mutation in type V collagen- Vascular type (vascular and organ rupture): deficient type III collagen
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