Article
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.
BMC medical genetics - 8 Sept 2011
Morey Marcos, Castro-Feijóo Lidia, Barreiro Jesús, Cabanas Paloma, Pombo Manuel, Gil Marta, Bernabeu Ignacio, Díaz-Grande José M, Rey-Cordo Lourdes, Ariceta Gema, Rica Itxaso, Nieto José, Vilalta Ramón, Martorell Loreto, Vila-Cots Jaime, Aleixandre Fernando, Fontalba Ana, Soriano-Guillén Leandro, García-Sagredo José M, García-Miñaur Sixto, Rodríguez Berta, Juaristi Saioa, García-Pardos Carmen, Martínez-Peinado Antonio, Millán José M, Medeira Ana, Moldovan Oana, Fernandez Angeles, Loidi Lourdes
Abstract excerpt
BACKGROUND: 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. The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene. The purpose of this study was to perform genetic diagnosis in a cohort of patients with clinical...
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