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hypophosphatemic rickets, autosomal dominant
Genetics:
- associated with defects in FGF23
Clinical manifestations:
- rickets
- osteomalacia
- leg deformities
- short stature
- bone pain
- dental abscesses
Laboratory:
- low serum phosphorus concentrations
General
hereditary rickets
Database Correlations
OMIM 193100
References
OMIM :accession 193100