ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Invest 2018;128:1913-1918Two rare genetic forms of vitamin D–dependent rickets exist: VDDR-1 caused by mutations in the genes encoding either the renal 1-α hydroxylase (CYP27B1: VDDR-1A) or the hepatic 25-hydroxylase (CYP2R1: VDDR-1B) and VDDR-2 caused by mutations in the vitamin D receptor signalling due to mutations in the gene encoding the ...