Phenotypic Heterogeneity in Five Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
January 1992
in “
Clinical Pediatric Endocrinology
”
Studysummary This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
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