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Br J Dermatol. 2010 Dec;163(6):1340-5. doi: 10.1111/j.1365-2133.2010.09949.x.

Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature.

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1
Department of Dermatology, The General Infirmary at Leeds, Great George's Street, Leeds LS1 3EX, UK. Michael.O'Connell@leedsth.nhs.uk

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.

[Indexed for MEDLINE]

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