tenascin-X deficiency(redirected from TNX deficiency)
tenascin-X deficiencyA clinically distinct autosomal recessive (OMIM:606408) Ehlers-Danlos-like condition characterised by hyperextensible skin, hypermobile joints and tissue fragility. These patients lack atrophic scars—a major diagnostic criteria for classic Ehlers-Danlos syndrome (EDS); delayed wound healing, a feature of classic EDS, is only present in some patients.
Defects of TNXB, which encodes an extracellular matrix glycoprotein of the tensacin family, cause Ehlers-Danlos-like syndrome.
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