A Recessive Form of the Ehlers–Danlos Syndrome Caused by Tenascin-X Deficiency

Abstract

Tenascin-X deficiency causes a clinically distinct, recessive form of the Ehlers-Danlos syndrome. This finding indicates that factors other than the collagens or collagen-processing enzymes can cause the syndrome and suggests a central role for tenascin-X in maintaining the integrity of collagenous matrix.