Work

Ehlers–Danlos syndrome: A showcase of conditions that lead to understanding matrix biology

Year: 2013
Type: review
Abstract: The Ehlers-Danlos syndromes (EDS) are genetically and clinically diverse disorders in which affected individuals share a number of physical characteristics, including joint hypermobility, skin extensibility, and tissue friability. Clinical investigations opened the door to identifying the biochemical and molecular etiologies of this diverse but overlapping group of disorders. In this article, we provide an overview of how these disorders inform our understanding of matrix biology, including the role of collagens (types I, III and V), proteoglycans and other proteins.
Language: English
Subfield: Genetics
Open Access status: hybrid
Estimated APC paid: $4,280
OpenAlex ID: W2068643901
FWCI: 0.901
Cites: 81
Cited by: 68
Related to: 10