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spondyloepiphyseal dysplasia type Kimberley (SEDK)
Pathology:
- congenital chondrodysplasia that specifically affects epiphyses & vertebra
Genetics:
- autosomal dominant
- associated with defects in aggregan (ACAN)
Clinical manifestations:
- premature degenerative arthropathy (osteoarthritis)
General
spondyloepiphyseal dysplasia
Database Correlations
OMIM 608361
References
OMIM :accession 608361