SLC34A1 and hypophosphatemia: The following findings support the causative role of the SLC34A1 N227S mutation in the pathogenesis of the disease in our pedigree: this is a novel mutation and is absent in multiple public databases; this mutation segregates with the disease phenotype and is predicted to be deleterious by different in silico prediction programs; the asparagine residue is highly conserved across species; other known hypophosphatemia-related genes were excluded by WES.