Abstract
[2] Apart from the suggestive clinical picture of rickets, hypotonia, muscle weakness, growth failure, and hypocalcemic seizures in early infancy, certain characteristic laboratory features of increased serum concentrations of parathyroid hormone, and low or undetectable serum concentrations of 1,25-dihydroxyvitamin D (1,25(OH) 2D) despite normal or increased concentrations of 25-hydroxyvitamin D (25-OHD) in addition to genetic mutational studies, must be sought to confirm the diagnosis of VDDR-I.
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