Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

Abstract Background X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the major manifestations of XLH in children, but there is a broad phenoty...

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Main Authors: Enrique Rodríguez-Rubio, Helena Gil-Peña, Sara Chocron, Leire Madariaga, Francisco de la Cerda-Ojeda, Marta Fernández-Fernández, Carmen de Lucas-Collantes, Marta Gil, María Isabel Luis-Yanes, Inés Vergara, Juan David González-Rodríguez, Susana Ferrando, Montserrat Antón-Gamero, Marta Carrasco Hidalgo-Barquero, Angustias Fernández-Escribano, Mº Ángeles Fernández-Maseda, Laura Espinosa, Aniana Oliet, Antonio Vicente, Gema Ariceta, Fernando Santos, RenalTubeGroup
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
XLH
Inherited hypophosphatemia
Growth retardation
Bone deformities
Rickets
Online Access:https://doi.org/10.1186/s13023-021-01729-0

Internet

https://doi.org/10.1186/s13023-021-01729-0

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