Article
Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.
Clinical genetics - 1 Mar 2017
Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen B G, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans N C
Abstract excerpt
The tenascin-X (TNX) deficient type Ehlers-Danlos syndrome (EDS) is similar to the classical type of EDS. Because of the limited awareness among geneticists and the challenge of the molecular analysis of the TNXB gene, the TNX-deficient type EDS is probably to be under diagnosed. We therefore performed an observational, cross-sectional study. History and physical examination were performed. Results of serum TNX...
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