Ehlers-Danlos syndrome type III (benign hypermobility form)
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Pathology
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
More general terms
References
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2189-91
- ↑ OMIM https://mirror.omim.org/entry/130020