Three Novel Mutations of the PHEX Gene in Three Chinese Families with X-linked Dominant Hypophosphatemic Rickets

Author:

Xia Weibo,Meng Xunwu,Jiang Yan,Li Mei,Xing Xiaoping,Pang Li,Wang Ou,Pei Yu,Yu Li-Yun,Sun Yue,Hu Yingying,Zhou Xueying

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology,Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Reference31 articles.

1. Rasmussen H, Tenenhouse HS (1995) Mendelian hypophosphatemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic and Molecular Basis of Inherited Disease, vol 2. McGraw Hill, New York, pp 3717–3745

2. Whyte MP, Schranck FW, Armamento R (1996) X-linked hypophosphataemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab 81:4075–4080

3. Econs MJ, McEnery PT (1997) Autosomal dominant hypophosphataemic rickets/osteomalacia: Clinical characterization of a novel renal phosphate wasting disorders. J Clin Endocrinol Metab 82:674–681

4. Rowe PS (1994) Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia. Hum Genet 94:457–467

5. HYP Consortium (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11:130–136

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