T. FRANKLIN WILLIAMS, M.D.
Familial Vitamin D-resistant rickets with hypophosphatemia presents the challenge of apparently simple genetics but multi-organ sites of expression of the disorder. With very rare exceptions its inheritance is consistent with a single-dose effect in the X-linked gene ("sex-linked dominance"), and, when hypophosphatemia is used as the indicator of its presence, the degree of expressivity or penetrance is virtually complete. How, then, does one account in a unifying way for the findings of  decreased net renal tubular reabsorption of phosphate (which presumably is the explanation for the hypophosphatemia),  decreased intestinal reabsorption of calcium,  the bony abnormalities consisting not
WILLIAMS TF. Pathogenesis of Familial Vitamin D-Resistant Rickets. Ann Intern Med. ;68:706–707. doi: 10.7326/0003-4819-68-3-706
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Published: Ann Intern Med. 1968;68(3):706-707.
Endocrine and Metabolism, Metabolic Bone Disorders.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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