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Marfan syndrome


Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 codes for a protein called fibrillin-1, which is essential for the formation of elastic fibers found in connective tissue.
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Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 encodes a protein called fibrillin, which is essential for the formation of elastic fibres found in connective tissue.
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Since 1990, scientists have used this approach to find genes implicated in such conditions as Marfan syndrome, inherited nonpolyposis colon cancer, retinitis pigmentosa, long QT syndrome, Jackson-Weiss syndrome, Crouzon syndrome, Alzheimer's disease, ...
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For example, people with Marfan syndrome may be tall, thin, have long legs, arms and fingers, and may be nearsighted. Their connective tissue is defective.
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The structures of part of the fibrillin genes (FBN1) of a normal individual and two individuals affected by Marfan syndrome are shown at left. Boxes represent coding regions.
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Marfan syndrome -- autosomal dominant condition of connective tissue; affects the skeletal, ocular and cardiovascular systems.
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