Tenascin‐X deficiency and Ehlers–Danlos syndrome: a case report and review of the literature

Summary 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.