【摘 要】
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Background: Hypophosphatemic rickets (HR) is a disorder of phosphate homeostasis characterized by rachitic, growth retardation, hypophosphatemia and renal phosphate wasting.X-linked dominant HR (XLHR)
【机 构】
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Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medic
【出 处】
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第七届国际骨质疏松及骨矿盐疾病学术会议
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Background: Hypophosphatemic rickets (HR) is a disorder of phosphate homeostasis characterized by rachitic, growth retardation, hypophosphatemia and renal phosphate wasting.X-linked dominant HR (XLHR), caused by inactivating mutations in phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX), is the most common form of HR, but the phenotype-genotype relationship remains unclear.
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