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 <it>PHEX </it>mutation type

• Main Authors: García-Miñaur Sixto (Author), García-Sagredo José M (Author), Soriano-Guillén Leandro (Author), Fontalba Ana (Author), Aleixandre Fernando (Author), Vila-Cots Jaime (Author), Martorell Loreto (Author), Vilalta Ramón (Author), Nieto José (Author), Rica Itxaso (Author), Ariceta Gema (Author), Rey-Cordo Lourdes (Author), Díaz-Grande José M (Author), Bernabeu Ignacio (Author), Gil Marta (Author), Pombo Manuel (Author), Cabanas Paloma (Author), Barreiro Jesús (Author), Castro-Feijóo Lidia (Author), Morey Marcos (Author), Rodríguez Berta (Author), Juaristi Saioa (Author), García-Pardos Carmen (Author), Martínez-Peinado Antonio (Author), Millán José M (Author), Medeira Ana (Author), Moldovan Oana (Author), Fernandez Angeles (Author), Loidi Lourdes (Author)
• Format: Book
• Published: BMC, 2011-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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 D₃(1,25(OH)₂D) serum levels...