Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 20649799.
- Also identified by DOI 10.1111/j.1365-2133.2010.09949.x.
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Abstract
Tenascin-X is a large extracellular matrix glycoprotein that is widely distributed within connective tissues and is associated with an autosomal recessive type of Ehlers-Danlos syndrome (EDS). Tenascin-X represents the first EDS susceptibility gene that does not code for a fibrillar collagen or collagen-processing enzyme. We describe a paediatric case of tenascin-X deficiency and review the literature.
Medical subject headings
- Ehlers-Danlos Syndrome
- Tenascin