Dental phenotypes associated with novel PHEX variants in X-linked hypophosphatemia.

Abstract excerpt

OBJECTIVES: X-linked hypophosphatemia (XLH) is a genetic disorder related to bone, mainly due to the mutations in PHEX gene. Previous studies have reported that XLH patients had various tooth phenotypes. It is unclear whether there are any rules about these abnormal tooth phenotypes, especially in those XLH cases with PHEX mutations. The objectives of this study were to find the most representative dental...

Topics

• Humans
• Familial Hypophosphatemic Rickets
• PHEX Phosphate Regulating Neutral Endopeptidase
• Phenotype
• Male
• Mutation