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Genetic disorders of collagen

  • P. Tsipouras
  • , F. Ramirez

Research output: Contribution to journalReview articlepeer-review

42 Scopus citations

Abstract

Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes.

Original languageEnglish
Pages (from-to)2-8
Number of pages7
JournalJournal of Medical Genetics
Volume24
Issue number1
DOIs
StatePublished - 1987
Externally publishedYes

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