Marfan’s Syndrome and Other Microfibrillar Diseases

  • Harry C. Dietz
  • Francesco Ramirez
  • Lynn Y. Sakai
Part of the Advances in Human Genetics book series (AHUG, volume 22)


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).


Elastic Fiber Marfan Syndrome Aortic Dilatation Intrachain Disulfide Bond Fibrillin Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 1994

Authors and Affiliations

  • Harry C. Dietz
    • 1
  • Francesco Ramirez
    • 2
  • Lynn Y. Sakai
    • 3
  1. 1.Departments of Pediatrics, Medicine, and Molecular Biology and GeneticsJohns Hopkins University School of MedicineBaltimoreUSA
  2. 2.Brookdale Center for Molecular BiologyMount Sinai School of MedicineNew YorkUSA
  3. 3.Shriners Hospital for Crippled Children and Department of Biochemistry and Molecular BiologyOregon Health Sciences UniversityPortlandUSA

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