Article
Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases.
Clinical dysmorphology - 1 Jan 2012
Hendriks Anke G M, Voermans Nicol C, Schalkwijk Joost, Hamel Ben C, van Rossum Michelle M
Abstract excerpt
The Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders. The six major, well-defined, subtypes are classified according to diagnostic criteria, formalized in the Villefranche revised nosology. Shortly after the publication of these criteria in 1998, a further distinct type of EDS, the tenascin-X (TNX)-deficient type EDS, was reported. The...
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