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Genetics

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Question:

Talk about Marfan syndrome.

Author: H K



Answer:

Marfan syndrome, a human malady resulting from an autosomal dominant mutation in the gene encoding the connective tissue protein fibrillin. Because this protein is widespread in many tissues in the body, one would expect multiple effects of such a defect. In fact, fibrillin is important to the structural integrity of the lens of the eye, to the lining of vessels such as the aorta, and to bones, among other tissues. As a result, the phenotype associated with Marfan syndrome includes lens dislocation, increased risk of aortic aneurysm, and lengthened long bones in limbs.


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H K
H K