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Heritable Disorders of Connective Tissue

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Primer on the Rheumatic Diseases

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Abstract

The molecular composition and organization of connective tissue, known as the extracellular matrix, are extraordinarily complex. Much remains unknown about the number, structure, map location, and regulation of genes that control synthesis, organization, and metabolism of this ubiquitous tissue. However, the genes that specify several hundred proteins involved in connective tissue metabolism and skeletal development have been mapped (1). Mutations in the genes for these proteins cause a variety of disorders. The heritable disorders of connective tissue (HDCT) follow Mendel’s laws, but like many such disorders, show both considerable variability within and among families and genetic heterogeneity (2,3).

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Author information

Authors and Affiliations

  1. Department of Medicine and Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA, USA

    Reed Edwin Pyeritz MD, Phd (Professor)

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  1. Reed Edwin Pyeritz MD, Phd
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Editors and Affiliations

  1. Arthritis Foundation, Atlanta, GA, USA

    John H. Klippel MD (President and CEO) (President and CEO)

  2. Massachusetts General Hospital, Boston, MA, USA

    John H. Stone MD, MPH (Associate Physician, Deputy Editor for Rheumatology) (Associate Physician, Deputy Editor for Rheumatology)

  3. Division of Rheumatology & Women’s Health, University of Kentucky, Lexington, KY, USA

    Leslie J. Crofford MD (Gloria W. Singletary Professor of Internal Medicine, Chief) (Gloria W. Singletary Professor of Internal Medicine, Chief)

  4. Arthritis Foundation, Atlanta, GA, USA

    Patience H. White MD, MA (Chief Public Health Officer) (Chief Public Health Officer)

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Pyeritz, R.E. (2008). Heritable Disorders of Connective Tissue. In: Klippel, J.H., Stone, J.H., Crofford, L.J., White, P.H. (eds) Primer on the Rheumatic Diseases. Springer, New York, NY. https://doi.org/10.1007/978-0-387-68566-3_31

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  • DOI: https://doi.org/10.1007/978-0-387-68566-3_31

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-0-387-35664-8

  • Online ISBN: 978-0-387-68566-3

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