Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)<sub>2</sub>D serum levels are associated with <it>PHEX </it>mutation type

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)<sub>2</sub>D serum levels are associated with <it>PHEX </it>mutation type

<p>Abstract</p> <p>Background</p> <p>Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D<sub>3 </sub>(1,25(OH)<sub>2</sub>D) serum levels...

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Main Authors: García-Miñaur Sixto, García-Sagredo José M, Soriano-Guillén Leandro, Fontalba Ana, Aleixandre Fernando, Vila-Cots Jaime, Martorell Loreto, Vilalta Ramón, Nieto José, Rica Itxaso, Ariceta Gema, Rey-Cordo Lourdes, Díaz-Grande José M, Bernabeu Ignacio, Gil Marta, Pombo Manuel, Cabanas Paloma, Barreiro Jesús, Castro-Feijóo Lidia, Morey Marcos, Rodríguez Berta, Juaristi Saioa, García-Pardos Carmen, Martínez-Peinado Antonio, Millán José M, Medeira Ana, Moldovan Oana, Fernandez Angeles, Loidi Lourdes
Format: Article
Language:English
Published: BMC 2011-09-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/12/116

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http://www.biomedcentral.com/1471-2350/12/116

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