Ehlers-Danlos-Syndrom bei Tenascin-X-Mangel ist eine autosomal rezessive Erkrankung die durch Mutationen im TNXB-Gen ausgelöst wird. Sie ist charakterisiert durch eine Hyperelastizität der Haut die auf eine kollagendysplasie zurückzuführen ist.
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OMIM.ORG article Omim 606408 |
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Orphanet article Orphanet ID 230839 |