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Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders

25 Apr 2024

Abstract excerpt

Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesis, development, or secretion of collagen and/or its associated proteins. The clinical phenotype includes multiple signs and symptoms, usually nonspecific but of interest to rheumatologists because of...

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PMID: 38664779
DOI: 10.1186/s42358-024-00373-z

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