A Novel Missense Mutation (C84R) in a Patient with Type II Vitamin D-dependent Rickets

Abstract

A 7-year-old boy with severe rickets that by clinical analysis was diagnosed as affected by type II vitamin D-dependent rickets, was evaluated for mutations in the vitamin D receptor gene (VDR). The molecular analysis showed a homozygous state for a novel missense mutation (C84R) in a highly conserved nucleotide in the second Zn finger of the DNA binding domain.

vitamin D dependent rickets type II - vitamin D receptor - missense mutant

References

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