Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor

Author:

Malloy Peter J.,Wang Jining,Srivastava Tarak,Feldman David

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference23 articles.

1. Vitamin D: biology, action, and clinical implications;Feldman,2007

2. The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets;Malloy;Endocr. Rev.,1999

3. Hereditary 1,25-dihydroxyvitamin D resistant rickets;Malloy,2005

4. Vitamin D resistant rickets with alopecia: cultured skin fibroblasts exhibit defective cytoplasmic receptors and unresponsiveness to 1,25(OH)2D3;Feldman;J. Clin. Endocrinol. Metab.,1982

5. The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families;Malloy;J. Clin. Invest.,1990

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