Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.
Ayla GuvenRoua A Al-RijjalHuda A BinEssaDurmuş DoganYılmaz KorMinjing ZouNamik KayaAnwar F AleneziSuna HanciliÖmer TarımEssa Y BaiteiWalaa E KattanBrian F MeyerYufei ShiPublished in: Clinical endocrinology (2017)
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.