Beck-Nielsen SS, Brock-Jacobsen B, Gram J, Brixen K, Jensen TK. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. Eur J Endocrinol. 2009;160(3):491–7. https://doi.org/10.1530/EJE-08-0818.

Article  CAS  PubMed  Google Scholar 

Ackah SA, Imel EA. Approach to hypophosphatemic rickets. J Clin Endocrinol Metab. 2022;108(1):209–20. https://doi.org/10.1210/clinem/dgac488.

Article  PubMed  PubMed Central  Google Scholar 

ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000;26(3):345–8. https://doi.org/10.1038/81664.

Article  CAS  Google Scholar 

Bai XY, Miao D, Goltzman D, Karaplis AC. The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency. J Biol Chem. 2003;278(11):9843–9. https://doi.org/10.1074/jbc.M210490200.

Article  CAS  PubMed  Google Scholar 

Imel EA, Hui SL, Econs MJ. FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Miner Res. 2007;22(4):520–6. https://doi.org/10.1359/jbmr.070107.

Article  CAS  PubMed  Google Scholar 

Tanaka H, Tamura M, Muto M, Kinoshita Y, Ito N, Oka A, et al. A novel pathogenic variant in fibroblast growth factor 23 outside the furin-recognizing RXXR motif in an autosomal dominant hypophosphatemic rickets patient. Horm Res Paediatr. 2025;98(3):274–81. https://doi.org/10.1159/000538388.

Article  CAS  PubMed  Google Scholar 

Mumbach G, Florenzano P, Quinteros J, Avila C, Zanchetta MB. Autosomal dominant hypophosphatemic rickets: a case report of two sisters with a novel FGF-23 mutation. Osteoporos Int. 2025;36(11):2337–41. https://doi.org/10.1007/s00198-025-07640-9.

Article  CAS  PubMed  Google Scholar 

Econs MJ, McEnery PT. Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder. J Clin Endocrinol Metab. 1997;82(2):674–81. https://doi.org/10.1210/jcem.82.2.3765.

Article  CAS  PubMed  Google Scholar 

Farrow EG, Yu X, Summers LJ, Davis SI, Fleet JC, Allen MR, et al. Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice. Proc Natl Acad Sci U S A. 2011;108(46):E1146. https://doi.org/10.1073/pnas.1110905108.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Imel EA, Peacock M, Gray AK, Padgett LR, Hui SL, Econs MJ. Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans. J Clin Endocrinol Metab. 2011;96(11):3541–9. https://doi.org/10.1210/jc.2011-1239.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Imel EA, Liu Z, Coffman M, Acton D, Mehta R, Econs MJ. Oral iron replacement normalizes fibroblast growth factor 23 in iron-deficient patients with autosomal dominant hypophosphatemic rickets. J Bone Miner Res. 2020;35(2):231–8. https://doi.org/10.1002/jbmr.3878.

Article  CAS  PubMed  Google Scholar 

Kapelari K, Kohle J, Kotzot D, Hogler W. Iron supplementation associated with loss of phenotype in autosomal dominant hypophosphatemic rickets. J Clin Endocrinol Metab. 2015;100(9):3388–92. https://doi.org/10.1210/jc.2015-2391.

Article  CAS  PubMed  Google Scholar 

Davis K, Imel EA, Kelley J. Hypophosphatemic rickets and short stature. J Bone Miner Res. 2024;39(7):821–5. https://doi.org/10.1093/jbmr/zjae103.

Article  CAS  PubMed  Google Scholar 

Cebeci AN, Zou M, BinEssa HA, Alzahrani AS, Al-Rijjal RA, Al-Enezi AF, et al. Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets. J Clin Endocrinol Metab. 2020. https://doi.org/10.1210/clinem/dgz260.

Article  PubMed  Google Scholar 

Bhandaru M, Kempe DS, Rotte A, Capuano P, Pathare G, Sopjani M, et al. Decreased bone density and increased phosphaturia in gene-targeted mice lacking functional serum- and glucocorticoid-inducible kinase 3. Kidney Int. 2011;80(1):61–7. https://doi.org/10.1038/ki.2011.67.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Endo I, Fukumoto S, Ozono K, Namba N, Tanaka H, Inoue D, et al. Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement. Bone. 2008;42(6):1235–9. https://doi.org/10.1016/j.bone.2008.02.014.

Article  CAS  PubMed  Google Scholar 

Hartley IR, Gafni RI, Roszko KL, Brown SM, de Castro LF, Saikali A, et al. Determination of FGF23 levels for the diagnosis of FGF23-mediated hypophosphatemia. J Bone Miner Res. 2022;37(11):2174–85. https://doi.org/10.1002/jbmr.4702.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Othman AA, Babcock HE, Ferreira CR. Osteoglophonic Dysplasia. In: Adam MP BS, Mirzaa GM, et al., editor. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. 1993–2025. https://www.ncbi.nlm.nih.gov/books/NBK602944/. Accessed 12/30/2025.

Othman AA, Babcock HE, Gill CS, Fraser JL, Regier DS, Kaur R, et al. New phenotypic features in FGFR1-related osteoglophonic dysplasia. Am J Med Genet. 2025;197(9):e64092. https://doi.org/10.1002/ajmg.a.64092.

Article  CAS  PubMed  PubMed Central  Google Scholar 

White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, et al. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet. 2005;76(2):361–7. https://doi.org/10.1086/427956.

Article  CAS  PubMed  Google Scholar 

Lee JC, Su SY, Changou CA, Yang RS, Tsai KS, Collins MT, et al. Characterization of FN1-FGFR1 and novel FN1-FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors. Mod Pathol. 2016;29(11):1335–46. https://doi.org/10.1038/modpathol.2016.137.

Article  CAS  PubMed  Google Scholar 

Lorenz-Depiereux B, Bastepe M, Benet-Pages A, Amyere M, Wagenstaller J, Muller-Barth U, et al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet. 2006;38(11):1248–50. https://doi.org/10.1038/ng1868.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, et al. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. Nat Genet. 2006;38(11):1310–5. https://doi.org/10.1038/ng1905.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Farrow EG, Davis SI, Ward LM, Summers LJ, Bubbear JS, Keen R, et al. Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets. Bone. 2009;44(2):287–94. https://doi.org/10.1016/j.bone.2008.10.040.

Article  CAS  PubMed  Google Scholar 

Koshida R, Yamaguchi H, Yamasaki K, Tsuchimochi W, Yonekawa T, Nakazato M. A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets. J Bone Miner Metab. 2010;28(5):585–90. https://doi.org/10.1007/s00774-010-0169-0.

Article  CAS  PubMed  Google Scholar 

Ni X, Li X, Zhang Q, Liu C, Gong Y, Wang O, et al. Clinical characteristics and bone features of autosomal recessive hypophosphatemic rickets type 1 in three Chinese families: report of five Chinese cases and review of the literature. Calcif Tissue Int. 2020;107(6):636–48. https://doi.org/10.1007/s00223-020-00755-7.

Article  CAS  PubMed  Google Scholar 

Bai X, Levental M, Karaplis AC. Burosumab treatment for autosomal recessive hypophosphatemic rickets type 1 (ARHR1). J Clin Endocrinol Metab. 2022;107(10):2777–83. https://doi.org/10.1210/clinem/dgac433.

Article  PubMed  PubMed Central  Google Scholar 

Ni X, Gong Y, Jiang Y, Li X, Pang Q, Liu W, et al. The first compound heterozygous mutations of DMP1 causing rare autosomal recessive hypophosphatemic rickets type 1. J Clin Endocrinol Metab. 2023;108(4):791–801.