Article
Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.
Biochemical and biophysical research communications - 13 Jul 2012
Kang Qing-lin, Xu Jia, Zhang Zeng, He Jin-wei, Lu Lian-song, Fu Wen-zhen, Zhang Zhen-lin
Abstract excerpt
BACKGROUND: X-linked hypophosphatemia (XLH), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, short stature, and rachitic manifestations. The related gene with inactivating mutations associated with XLH has been identified as PHEX, which is a phosphate-regulating gene with homologies to...
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