Article
CYP3A4 mutation causes vitamin D-dependent rickets type 3.
The Journal of clinical investigation - 1 May 2018
Roizen Jeffrey D, Li Dong, O'Lear Lauren, Javaid Muhammad K, Shaw Nicholas J, Ebeling Peter R, Nguyen Hanh H, Rodda Christine P, Thummel Kenneth E, Thacher Tom D, Hakonarson Hakon, Levine Michael A
Abstract excerpt
Genetic forms of vitamin D-dependent rickets (VDDRs) are due to mutations impairing activation of vitamin D or decreasing vitamin D receptor responsiveness. Here we describe two unrelated patients with early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to parent and activated forms of vitamin D. Neither patient had a...
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