Well-defined clinical presentation of Ehlers–Danlos syndrome in patients with tenascin-X deficiency
Abstract
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 phenotype of this largely unknown type...
Paper Details
Title
Well-defined clinical presentation of Ehlers–Danlos syndrome in patients with tenascin-X deficiency
Published Date
Jan 1, 2012
Journal
Volume
21
Issue
1
Pages
15 - 18
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