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Genetica dei rachitismi ereditari vitamina D dipendenti

  • GENETICA IN ENDOCRINOLOGIA
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Bibliografia

  1. Misra M, Pacaud D, Petryk A et al. (2008) Vitamin D deficiency in children and its management: review of current knowledge and recommendations. Pediatrics 122:398–417

    Article  PubMed  Google Scholar 

  2. Miller WL (2017) Genetic disorders of vitamin D biosynthesis and degradation. J Steroid Biochem Mol Biol 165:101–108

    Article  CAS  PubMed  Google Scholar 

  3. Beck-Nielsen SS, Brock-Jacobsen B, Gram J et al. (2009) Incidence and prevalence of nutritional and hereditary rickets in southern Denmark. Eur J Endocrinol 160:491–497

    Article  CAS  PubMed  Google Scholar 

  4. Michałus I, Rusińska A (2018) Rare, genetically conditioned forms of rickets: differential diagnosis and advances in diagnostics and treatment. Clin Genet 94:103–114

    Article  PubMed  Google Scholar 

  5. Thacher TD, Levine MA (2017) CYP2R1 mutations causing vitamin D-deficiency rickets. J Steroid Biochem Mol Biol 173:333–336

    Article  CAS  PubMed  Google Scholar 

  6. Chen H, Hewison M, Hu B et al. (2003) Heterogeneous nuclear ribonucleoprotein (hnRNP) binding to hormone response elements: a cause of vitamin D resistance. Proc Natl Acad Sci USA 100:6109–6114

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Correspondence to Vito Guarnieri.

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Conflitto di interesse

Gli autori Carla Columbu, Luigia Cinque e Vito Guarnieri dichiarano di non avere conflitti di interesse.

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Gli autori di questo articolo non hanno eseguito studi sugli animali.

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Proposto da V. Guarnieri.

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Columbu, C., Cinque, L. & Guarnieri, V. Genetica dei rachitismi ereditari vitamina D dipendenti. L'Endocrinologo 24, 311–313 (2023). https://doi.org/10.1007/s40619-023-01270-1

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  • DOI: https://doi.org/10.1007/s40619-023-01270-1

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