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References

1. Dinour D, Beckerman P, Ganon L, Tordjman K, Eisenstein Z, Holtzman EJ.Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, causelong-standing hypercalciuric nephrolithiasis and nephrocalcinosis. J Urol. 2013Aug;190(2):552-7. doi: 10.1016/j.juro.2013.02.3188.
2. Molin A, Baudoin R, Kaufmann M, Souberbielle JC, Ryckewaert A, Vantyghem MC,Eckart P, Bacchetta J, Deschenes G, Kesler-Roussey G, Coudray N, Richard N,Wraich M, Bonafiglia Q, Tiulpakov A, Jones G, Kottler ML. CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. J ClinEndocrinol Metab. 2015 Oct;100(10):E1343-52. doi: 10.1210/jc.2014-4387.
3. Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, Horst R,Huang Y, Golas G, Introne W, Huizing M, Adams D, Boerkoel CF, Collins MT, GahlWA. 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause ofNephrolithiasis. Clin J Am Soc Nephrol. 2013 Apr;8(4):649-57. doi:10.2215/CJN.05360512.
4. Pronicka E, Ciara E, Halat P, Janiec A, Wójcik M, Rowińska E, Rokicki D,Płudowski P, Wojciechowska E, Wierzbicka A, Książyk JB, Jacoszek A, Konrad M,Schlingmann KP, Litwin M. Biallelic mutations in CYP24A1 or SLC34A1 as a cause ofinfantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity:molecular study of 11 historical IIH cases. J Appl Genet. 2017 Aug;58(3):349-353.doi: 10.1007/s13353-017-0397-2.
5. Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, Misselwitz J,Klaus G, Kuwertz-Bröking E, Fehrenbach H, Wingen AM, Güran T, Hoenderop JG,Bindels RJ, Prosser DE, Jones G, Konrad M. Mutations in CYP24A1 and idiopathicinfantile hypercalcemia. N Engl J Med. 2011 Aug 4;365(5):410-21. doi:10.1056/NEJMoa1103864.