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USMLE Step 1 - Lesson 23 - Osteogenesis Imperfecta, Ehlers Danlos Syndrome and Menkes disease
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- čas přidán 15. 12. 2020
- Learn the pathophysiology of collagen.
Type 1 gene mutations lead to osteogenesis imperfecta
Type 5 and 3 leads to Ehlers Danlos (3 leads to vascular type)
and lysyl oxidase problems from copper deficiency leads to Menkes disease
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I code for type 1 and type 4 ehlers and a mutation in the marfan gene but I'm diagnosed with hypermobility type. 🤷🏾♀