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X-linked recessive chondrodysplasia punctata 1
Etiology:
- genetic disorder
- induced by inhibition of ARSE with warfarin
Pathology:
- congenital defect of bone & cartilage development
- aberrant bone mineralization
- severe underdevelopment of nasal cartilage
- distal phalangeal hypoplasia
Genetics:
- associated with defects in ARSE
General
osteochondrodysplasia
Database Correlations
OMIM 302950
References
OMIM :accession 302950