Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets

• প্রধান লেখক: Nahid Tavana (Author), Tzer Hwu Ting (Author), Kaitao Lai (Author), Marina L. Kennerson (Author), Karuppiah Thilakavathy (Author)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2022-12-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Abstract Background Hypophosphatemic rickets (HR) is a genetic disease of phosphate wasting that is characterized by defective bone mineralization. The most common cause of the disease is mutations in the phosphate regulating gene with homologies to endopeptidases on the X chromosome (PHEX) gene. Th...