Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
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BMC Med Genet. 2011 Sep 8;12:116. doi: 10.1186/1471-2350-12-116.
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PMID: 21902834
Free PMC article.