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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

Marcos Morey, Lidia Castro-Feijóo, Jesús Barreiro, Paloma Cabanas, Manuel Pombo, Marta Gil, Ignacio Bernabeu, José M Díaz-Grande, Lourdes Rey-Cordo, Gema Ariceta, Itxaso Rica, José Nieto, Ramón Vilalta, Loreto Martorell, Jaime Vila-Cots, Fernando Aleixandre, Ana Fontalba, Leandro Soriano-Guillén, José M García-Sagredo, Sixto García-Miñaur, Berta Rodríguez, Saioa Juaristi, Carmen García-Pardos, Antonio Martínez-Peinado, José M Millán, Ana Medeira, Oana Moldovan, Angeles Fernandez and Lourdes Loidi*

BMC Medical Genetics 2011, 12:116 doi:10.1186/1471-2350-12-116

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