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Tenascin‐X deficiency and Ehlers–Danlos syndrome: a case report and review of the literature
Author(s) -
O’Connell M.,
Burrows N.P.,
Van VlijmenWillems M.J.J.,
Clark S.M.,
Schalkwijk J.
Publication year - 2010
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2010.09949.x
Subject(s) - ehlers–danlos syndrome , medicine , pediatrics , dermatology
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.