Genetic disorders of collagen.
Open Access
- 1 January 1987
- journal article
- review article
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (1) , 2-8
- https://doi.org/10.1136/jmg.24.1.2
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.Keywords
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