title: Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature.
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.
authors.affiliation: Department of Dermatology, The General Infirmary at Leeds, Great George's Street, Leeds LS1 3EX, UK. Michael.O'Connell@leedsth.nhs.uk
authors.forename: M
authors.initials: M
authors.lastname: O'Connell
authors.forename: N P
authors.initials: NP
authors.lastname: Burrows
authors.forename: M J J
authors.initials: MJ
authors.lastname: van Vlijmen-Willems
authors.forename: S M
authors.initials: SM
authors.lastname: Clark
authors.forename: J
authors.initials: J
authors.lastname: Schalkwijk
mesh_terms: D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000473:pathology; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D019063:Tenascin / Q000172:deficiency* / Q000235:genetics
chemical_list: D019063:Tenascin; C081865:tenascin X