Examines calcium and mineral disturbances, clinical features, and treatment outcomes in children with inherited high bone density disorders and rickets-like mineralization defects.
Key Takeaways
- Short stature was observed in 13 of 17 patients (76.4%)
- Ophthalmologic abnormalities were present in 10 patients (58.8%)
- TCIRG1 was the most frequent mutation, followed by CLCN7, TNFSF11, TNFRSF11A , and CA2