Inactivating Mutations in the 25-Hydroxyvitamin D31α-Hydroxylase Gene in Patients with Pseudovitamin D–Deficiency Rickets

Abstract
Pseudovitamin D–deficiency rickets is characterized by the early onset of rickets with hypocalcemia and is thought to be caused by a deficit in renal 25-hydroxyvitamin D3 1α-hydroxylase, the key enzyme for the synthesis of 1α,25-dihydroxyvitamin D3.

This publication has 34 references indexed in Scilit: