Ehlers-Danlos syndrome due to tenascin X deficiency
An Ehlers-Danlos-like syndrome characterized by hyperextensible skin, hypermobile joints, and tissue fragility. Tenascin-X-deficient patients, however, lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos. Delayed wound healing, which is also common in classic EDS, is only present in a subset of patients.
Name | Development Level | Target Family |
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Name | Description |
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TCRDv4.6.9
UniProt Disease
UniProt Disease