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Heritable Disorders of Connective Tissue

  • R. E. Pyeritz

Abstract

  • The genes that specify the hundreds of proteins involved in connective tissue have been mapped.

  • The heritable disorders of connective tissue (HDCT) show both considerable variability within and among families and genetic heterogeneity.

  • ■ Phenotypes used: (1) disorders of fibrous elements, such as osteogenesis imperfecta and Marfan′s syndrome, (2) disorders of proteogylcan metabolism, such as mucopolysaccharidoses, (3) dysostoses and osteochondrodysplasias, such as achondroplasia, and (4) inborn errors of metabolism, such as homocystinuria.

Keywords

Carpal Tunnel Syndrome Osteogenesis Imperfecta Marfan Syndrome Mitral Valve Prolapse Osteogenesis Imperfecta Type 
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, LLC. 2008

Authors and Affiliations

  • R. E. Pyeritz
    • 1
  1. 1.Department of Medicine and GeneticsHospital of the University of PennsylvaniaPhiladelphiaUSA

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