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somatotrophinoma (growth hormone secreting pituitary tumor)
Epidemiology: rare
Pathology:
- defect in Ca+2 homeostasis
Genetics:
- autosomal dominant
- associated with defects in GNAS
Clinical manifestations:
- extensive dermal ossification during childhood, followed by disabling & widespread heterotopic ossification of skeletal muscle & deep connective tissue
General
genetic disease of the endocrine system
metabolic disease
Database Correlations
OMIM 166350
References
OMIM :accession 166350