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Ehlers-Danlos syndrome type III (benign hypermobility form)
Pathology:
- connective tissue disorder
Genetics:
- associated with defects in COL3A1 Clinical manfestations:
- hyperextensible skin
- atrophic cutaneous scars due to tissue fragility
- joint hyperlaxity
- marked joint hyperextensibility without skeletal deformity
Database Correlations
OMIM 130020
References
- Harrison's Principles of Internal Medicine, 14th ed.
Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2189-91
- OMIM :accession 130020