Abstract
Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Collagen / genetics*
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Collagen Diseases / genetics*
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Ehlers-Danlos Syndrome / genetics
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Ehlers-Danlos Syndrome / physiopathology
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Genes
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Humans
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Marfan Syndrome / genetics
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Marfan Syndrome / physiopathology
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Osteogenesis Imperfecta / genetics
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Osteogenesis Imperfecta / physiopathology