Tenascin-X Deficiency and Ehlers-Danlos Syndrome: A Case Report and Review of the Literature | oneedsvoice

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scientific articles

Tenascin-X Deficiency and Ehlers-Danlos Syndrome: A Case Report and Review of the Literature

key information

source: British Journal of Dermatology

year: 2010

authors: O'Connell M, Burrows NP, van Vlijmen-Willems MJ, Clark SM, Schalkwijk J

summary/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.

organisation: The General Infirmary at Leeds

DOI: 10.1111/j.1365-2133.2010.09949.x

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