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References

  1. Winters RW, Graham JB, Williams TF, McFalls VW, Burnett CH (1957) A genetic study of familial hypophosphatemia and vitamin D resistant rickets. Trans Assoc Am Phys 70: 234–242

    Google Scholar 

  2. Graham JB, McFalls VW, Winters RW (1959) Familial hypophosphatemia with vitamin D-resistant rickets. II. Three additional kindreds of the sex-linked dominant type with a genetic analysis of four such families. Am J Hum Genet 11: 311–332

    Google Scholar 

  3. Scriver CR, MacDonald W, Reade T, Glorieux FH, Nogrady B (1977) Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance. Am J Med Genet 1: 101–117

    Google Scholar 

  4. Stamp TCB, Baker LRI (1976) Recessive hypophosphataemic rickets, and possible aetiology of the “vitamino D-resistant” syndrome. Arch Dis Child 51: 360–365

    Google Scholar 

  5. Tieder M, Modai D, Shaked U, Samuel R, Arie R, Halabe A, Maor J Weissgarten J, Averbukh Z, Cohen Z, Edelstein S, Liberman UA (1987) “Idiopathic” hypercalciuria and hereditary hypophosphatemic rickets: two phenotypical expressions of a common genetic defect. N Engl J Med 316: 125–129

    Google Scholar 

  6. Boneh A, Reade TM, Scriver CR, Rishikof E (1987) Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts ofHyp andGy mutations in mouse. Am J Med Genet 27: 997–1003

    Google Scholar 

  7. Scriver CR, Reade TM (1987) Renal hypophosphataemia has several mendelian forms. Lancet II: 918

    Google Scholar 

  8. Smith R, O'Riordan JLH (1987) Of mouse and man: the hypophosphataemic genes. Q J Med 64: 705–707

    Google Scholar 

  9. Rasmussen H, Anast C (1983) Familial hypophosphatemic rickets and vitamin D-dependent rickets. In: Stanbury, JE, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 1743–1773

    Google Scholar 

  10. Chan JCM, Alon U, Hirschman GM (1985) Renal hypophosphatemic rickets. J Pediatr 106: 533–544

    Google Scholar 

  11. Read AP, Thakker RV, Davies KE, Mountfor RC, Brenton DP, Davies M, Glorieux F, Harris R, Hendy GN, King A, McGlade S, Peacock CJ, Smith R, O'Riordan JLH (1986) Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysis. Hum Genet 73: 267–270

    Google Scholar 

  12. Machler M, Frey D, Gal A, Orth U, Wienker TF, Fanconi A, Schmid W (1986) X-linked dominant hypophosphatemia closely linked to DNA markers DXS41 and DXS43 at Xp22. Hum Genet 73: 271–275

    Google Scholar 

  13. Kainer G, Spence JE, Chan JCM (1989) X-Linked hypophosphatemia: characterization of genetic and metabolic defects. Nephron 51: 449–453

    Google Scholar 

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Kainer, G., Chan, J.C.M. Ask the expert. Pediatr Nephrol 3, 472 (1989). https://doi.org/10.1007/BF00850233

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