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Updated: Jun 16, 2026
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel missense mutation (C84R) in a patient with type II vitamin d-dependent rickets
I Asunis1, M G Marini, L Porcu
1Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Italy.
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.
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