Hereditary connective tissue disorders

David R. Murdock, Harry C. Dietz, Gretchen MacCarrick

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

A connective tissue disorder is any disease that impacts the structures between cells, typically impacting collagen or elastin protein production or function. Heritable disorders of connective tissue is a broad category, ranging from a description of nonspecific features (hypermobility, flat feet, scoliosis) seen somewhat commonly in the general population to genetic syndromes typically without vascular involvement (Stickler syndrome, Ehlers-Danlos syndrome) to syndromes predisposing to vascular tear or rupture (heritable thoracic aortic disease).

Original languageEnglish (US)
Title of host publicationHandbook of Clinical Adult Genetics and Genomics
Subtitle of host publicationA Practice-Based Approach
PublisherElsevier
Pages127-145
Number of pages19
ISBN (Electronic)9780128173442
DOIs
StatePublished - Jan 1 2020

Keywords

  • Aortic aneurysm
  • Aortic dissection
  • Connective tissue
  • Ehlers-danlos
  • HDCT
  • HTAD
  • Loeys-dietz
  • Marfan
  • Stickler

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology

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