A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
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X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene defects in XLH have been revealed; these include missense mutati... ...
