1. Jan de Beur SM, Levine MA. Molecular pathogenesis of hypophosphatemic rickets. J Clin Endocrinol Metab 2002;87:2467–73.
2. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium. Nat Genet 1995;11:130–6.
3. ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 2000;26:345–8.
6. Strom TM, Jüppner H. PHEX, FGF23, DMP1 and beyond. Curr Opin Nephrol Hypertens 2008;17:357–62.
7. Cho HY, Lee BH, Kang JH, Ha IS, Cheong HI, Choi Y. A clinical and molecular genetic study of hypophosphatemic rickets in children. Pediatr Res 2005;58:329–33.
9. Kim J, Yang KH, Nam JS, Choi JR, Song J, Chang M, et al. A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. Ann Clin Lab Sci 2009;39:182–7.
12. Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, et al. A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets. Ann Pediatr Endocrinol Metab 2018;23:229–34.
15. Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep sequencing age. Nat Methods 2014;11:361–2.
16. Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, et al. Mutational analysis and genotypephenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2001;86:3889–99.
17. Sabbagh Y, Boileau G, DesGroseillers L, Tenenhouse HS. Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein. Hum Mol Genet 2001;10:1539–46.
18. Lee JY, Imel EA. The changing face of hypophosphatemic disorders in the FGF-23 era. Pediatr Endocrinol Rev 2013;10 Suppl 2:367–79.
20. Whyte MP, Carpenter TO, Gottesman GS, Mao M, Skrinar A, San Martin J, et al. Efficacy and safety of burosumab in children aged 1-4 years with X-linked hypophosphataemia: a multicentre, open-label, phase 2 trial. Lancet Diabetes Endocrinol 2019;7:189–99.