Clinical and genetic analysis of patients with vitamin <scp>D</scp>‐dependent rickets type 1<scp>A</scp>

Abstract

There is a good genotype-phenotype correlation in VDDR-IA. However, some patients may recover from the loss of CYP27B1 function, probably due to 1α-hydroxylase activity exerted by a non-CYP27B1 enzyme.