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- W1996578832 abstract "X-linked hypophosphatemic rickets (HYP) is the most common form of familial hypophosphatemic rickets. Patients variably prcsent with lower extremity deformities, rickets, short stature, bone pain, dental abscesses, enthesopathy, and osteomalacia [1]. It is an X-linked dominant disorder [21 characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia. Observations in the Hyp mouse, one of the murine homologues of the human diseasc, indicate that the disorder is not due to an intrinsic renal defect [3—6]. However, the HYP gene may directly or indirectly regulate the expression of the sodium dependent phosphate cotransporter (NPT2) in the renal proximal tubule [7]. Despite extensive study, the pathophysiology of the disorder has not been elucidated. To gain better understanding of this disorder we have used the positional cloning approach to locate and clone the HYP gene." @default.
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- W1996578832 date "1996-04-01" @default.
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- W1996578832 title "Positional cloning of the HYP gene: A review" @default.
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- W1996578832 doi "https://doi.org/10.1038/ki.1996.150" @default.
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