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Severe cases of homocystinuria are typically caused by autosomal recessive genetic defects and exhibit characteristic clinical features including ocular lens dislocation, marfanoid features and other skeletal abnormalities including osteoporosis, intellectual disability, and thromboembolic disease, the latter frequently being the cause of premature death in affected individuals (28)

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All research was approved by Kentucky Equine Research Internal Institutional Animal Care and Use Committee for protocol 18002