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REFERENCES

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    Liberman UA, Eil C, Marx SJ 1983 Resistance to 1,25-dihydroxyvitamin D: association with heterogenous defects in cultured skin fibroblasts. J Clin Invest 71: 192200.
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    Haussler MR, Whitfield GK, Haussler CA, Hsieh JC, Thompson PD, Selznick SH, Dominguez CE, Jurutka PW 1998 The nuclear vitamin D receptor: Biological and molecular regulatory properties revealed. J Bone Miner Res 13: 325349.
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    Malloy PJ, Zhu W, Bouillon R, Feldman D 2002 A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets. Mol Genet Metab 77: 314318.
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    Whitfield GK, Selznick SH, Haussler CA, Hsieh JC, Galligan MA, Jurutka PW, Thompson PD, Lee SM, Zerwekh JE, Haussler MR 1996 Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: Point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner. Mol Endocrinol 10: 16171631.
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    Malloy PJ, Xu R, Peng I, Clark PA, Feldman D 2002 A novel mutation in helix 12 of the vitamin D receptor impairs coactivator interaction and causes hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. Mol Endocrinol 10: 16171631.
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    Liberman UA, Marx SJ 2001 Vitamin D and other calciferols In: ScriverCR, BeaudetAL, SlyWS, ValleD (eds.) Metabolic and Molecular Bases of Inherited Diseases. The McGraw-Hill Companies, NY, USA, 42234240.
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    Malloy PJ, Pike GW, Feldman D 2005 Hereditary 1,25-dihydroxyvitamin D resistant rickets. FeldmanD, PikeGW, GlorieuxFH (eds.) Vitamin D. Elsevier, Academic Press, Burlington, VT, USA, 12071239.
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    Nguyen M, d'Alesio A, Pascussi JM, Kumar R, Griffin MD, Dong X, Guillozo H, Rizk-Rabin M, Sinding C, Bounéres P, Jehan F, Garabédian M 2006 Vitamin D resistant rickets and type 1 diabetes in a child with compound heterozygous mutations of the vitamin D receptor (L263R and R3915): dissociated responses of the CYP-24 and rel-B promotors to 1,25-dihydroxyvitamin D3. J Bone Miner Res 21: 886894.