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Czech dysplasia
Pathology:
- skeletal dysplasia
Genetics:
- associated with defects in COL2A1
Clinical manifestations:
- early-onset, progressive pseudo-rheumatoid arthritis
- platyspondyly
- short third & fourth toes
General
skeletal dysplasia
Database Correlations
OMIM 609162
References
OMIM :accession 609162