Inherited defects that interfere with vitamin D metabolism and action have contributed signif-icantly to our understanding of the molecular and physiological actions of the vitamin D endocrine system. This chapter reviews the genetic syndromes that result from impaired hydroxylation of vitamin D, from impaired vitamin D receptor action, and the biological basis for the resultant phenotypes.
CITATION STYLE
Demay, M. B. (2010). Inherited Defects of Vitamin D Metabolism. In Vitamin D (pp. 679–689). Humana Press. https://doi.org/10.1007/978-1-60327-303-9_36
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