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Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene.

Archives of Iranian medicine - 1 May 2008

Shafeghati Yousef, Momenin Nima, Esfahani Taher, Reyniers Edwin, Wuyts Wim

Abstract excerpt

Hereditary vitamin D-resistant rickets type or vitamin D-dependent rickets type II is a genetically determined and rare autosomal recessive disorder, most often caused by mutations in the vitamin D receptor gene. It usually presents with rachitic changes not responsive to vitamin D treatment and the circulating levels of 1,25 (OH)2 vitamin D-3 are elevated, differentiating it from vitamin D-dependent rickets type...

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PMID: 18426327
DOI: 08113/AIM.0017

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