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pycnodysostosis
Genetics:
- autosomal recessive
- associated with defects in CTSK
Clinical manifestations:
- osteosclerosis
- short stature
Laboratory:
- CTSK gene mutation
- cathepsin K in serum/plasma
General
skeletal dysplasia
osteochondrodysplasia
Database Correlations
OMIM 265800
References
OMIM :accession 265800