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Article

Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes.

Trends in molecular medicine - 1 Sept 2024

Syx Delfien, Malfait Fransiska

Abstract excerpt

The Ehlers-Danlos syndromes (EDS) are a group of rare heritable connective tissue disorders, common hallmarks of which are skin hyperextensibility, joint hypermobility, and generalized connective tissue fragility. Currently, 13 EDS types are recognized, caused by defects in 20 genes which consequently alter biosynthesis, organization, and/or supramolecular assembly of collagen fibrils in the extracellular matrix...

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Identifiers

PMID: 39147618
DOI: 10.1016/j.molmed.2024.06.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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