Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene

Three novel deleterious mutations in the VDR ligand-binding domain were identified, which are expected to render the VDR nonfunctional. Successful treatment with frequent high doses of oral calcium and calcidol was evident in all patients; however, hair growth occurred only in one patient.