A Rare Cause of Sacral Insufficiency Fracture in Adolescence: Autosomal Dominant Hypophosphatemic Rickets due to Fgf23 de novo P.Arg176trp Variant
{{output}}
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare metabolic bone disease with variable clinical presentation, caused by pathogenic variants in the FGF23 gene. The disease typically manifests in childhood with growth retardation and rickets symptoms,... ...
