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  • Title: Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature.
    Author: O'Connell M, Burrows NP, van Vlijmen-Willems MJ, Clark SM, Schalkwijk J.
    Journal: Br J Dermatol; 2010 Dec; 163(6):1340-5. PubMed ID: 20649799.
    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.
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