Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene

January 1992 in “ Clinical Pediatric Endocrinology ”

Takahiko Saijo, Eiji Takeda, Michinori Ito, Etsuo Naito, Ichiro Yokota, Junko Matsuda, Yasuhiro Kuroka

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Research cited in this study

3 / 3 results

research Two Siblings With Vitamin-D-Dependent Rickets Type II: No Recurrence Of Rickets For 14 Years After Cessation Of Therapy

47 citations , October 1989 in “European Journal of Pediatrics”

Two siblings stayed rickets-free for 14 years after stopping treatment.

research 1,25-Dihydroxyvitamin D Resistance, Rickets, and Alopecia

110 citations , November 1984 in “The American Journal of Medicine”

A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.

research Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects

88 citations , October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism”

Patients with this syndrome can have different responses and worsening resistance to treatment over time.