Mutational analysis of <i>PHEX</i>,<i> FGF23</i> and <i>CLCN5</i> in patients with hypophosphataemic rickets

Abstract

Novel and de novo mutations are frequent and PHEX mutations are still the most common genetic defects in the Turkish population. Gene copy number analysis should be considered in patients with negative results by conventional PCR-based sequencing analysis. The current study further expands the mutation spectrum underlying HR.