Abstract
During the past twenty years, the molecular causes of several heritable disorders of connective tissue have been firmly established. These advances have been facilitated by the development of new means of experimental analysis, and by the identification of new extracellular matrix (ECM) components. Most of the progress has increased our understanding of collagenopathies and the contribution of the fibrillar collagens to the structural integrity of bone, cartilage, skin, ligaments and internal organs (Lee et al., 1991a). We have also discovered causal associations between mutations in nonflbrillar collagens and the clinical manifestations of epidermolysis bullosa, Alport’s syndrome, and the Schmid form of metaphyseal chondrodysplasia (Uitto and Christiano, 1992; Hudson et al., 1993; Jacenko et al., 1994).
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Dietz, H.C., Ramirez, F., Sakai, L.Y. (1994). Marfan’s Syndrome and Other Microfibrillar Diseases. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics. Advances in Human Genetics, vol 22. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-9062-7_4
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