Abstract
A 15-month-old boy with severe rickets, that by clinical analysis was diagnosed as affected by hereditary pseudovitamin D deficiency rickets (PDDR), was evaluated for mutations in the 25OHD3 1α-hydroxylase gene. Molecular analysis showed a double heterozygous state for a novel splicing mutation in the invariant dinucleotide of the donor site of IVS6 and a 7 nucleotide insertion in the exon 8, which is common in different ethnical backgrounds.
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Porcu, L., Meloni, A., Casula, L. et al. A novel splicing defect (IVS6+1G>T) in a patient with pseudovitamin D deficiency rickets. J Endocrinol Invest 25, 557–560 (2002). https://doi.org/10.1007/BF03345500
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DOI: https://doi.org/10.1007/BF03345500