Normal bone mass and normocalcemia in adulthood despite homozygous vitamin D receptor mutations

Normocalcemia is maintained in mice under conditions of calcium malabsorption by vitamin D–induced inhibition of bone mineralization

Liesbet Lieben, Ritsuko Masuyama, Sophie Torrekens et al. · Journal of Clinical Investigation · 2012 · 367 citations · Full text

Medicine, Endocrinology, Nutritional Sciences +17

1,25-dihydroxyvitamin D resistance, rickets, and alopecia

Ze’ev Hochberg, A Benderli, Joseph Levy et al. · The American Journal of Medicine · 1984 · 114 citations

Medicine, Dermatology, Nutritional Sciences +11

Vitamin D Resistance and Alopecia: A Kindred with Normal 1,25-Dihydroxyvitamin D Binding, but Decreased Receptor Affinity for Deoxyribonucleic Acid*

Margaret Hirst, Hillel I. Hochman, David Feldman · The Journal of Clinical Endocrinology & Metabolism · 1985 · 111 citations

Medicine, Biochemistry, Endocrinology +17

Calcium Absorption, Kinetics, Bone Density, and Bone Structure in Patients with Hereditary Vitamin D-Resistant Rickets

Dov Tiosano, Salim Hadad, Zhensheng Chen et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 74 citations · Full text

Medicine, Endocrinology, Pediatrics +17

A Novel Nonsense Mutation in the First Zinc Finger of the Vitamin D Receptor Causing Hereditary 1,25-Dihydroxyvitamin D₃-Resistant Rickets

J B Mechica, M O R Leite, Berenice B. Mendonça et al. · The Journal of Clinical Endocrinology & Metabolism · 1997 · 59 citations · Full text

Medicine, Genetics, Molecular Genetics +16