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normophosphatemic familial tumoral calcinosis
Epidemiology:
- uncommon
Pathology:
- life-threatening disorder
- massive periarticular, & seldom visceral, deposition of calcified tumors
Genetics:
- associated with defects in SAMD9
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 610455
References
OMIM :accession 610455