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tenascin-X deficiency
Genetics:
- associated with defects in tenascin-X (TNXB)
Clinical manifestations:
- Ehlers-Danlos-like syndrome
- hyperextensible skin, hypermobile joints, & tissue fragility
- absence of atrophic scars*
- delayed wound healing is only present in a subset of patients*
* distinguishing features from Ehlers-Danlos syndrome
Differential diagnosis:
- Ehlers-Danlos syndrome
General
genetic disease of connective tissue
Database Correlations
OMIM 606408
References
OMIM :accession 606408