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

• Main Authors: Nahid Tavana (Author), Tzer Hwu Ting (Author), Kaitao Lai (Author), Marina L. Kennerson (Author), Karuppiah Thilakavathy (Author)
• Format: Bog
• Udgivet: BMC, 2022-12-01T00:00:00Z.
• Fag: article
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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...