Clinical Presentation, Diagnosis, and Genetic Characteristics of Patients with Hypophosphatemic Rickets

Phosphate plays an essential role in bone mineralization. Hypophosphatemic rickets (HR) is a rare phosphate-wasting disorder that leads to rickets, which may be FGF23-dependent or independent. In this study, we aimed to evaluate the clinical features of HR patients with genotypic and phenotypic features. This study included 32 children. The suspected gene was primarily studied in cases meeting the clinical diagnosis. Variants were evaluated according to ACMG criteria. All HR patients' median ages at the onset of complaints and diagnosis were 1.5 and 5 years, respectively (p