Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

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 phenotypic vari...

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Detalles Bibliográficos
Autores principales: Rodríguez-Rubio, Enrique, Gil-Peña, Helena, Chocron, Sara, Madariaga, Leire, de la Cerda-Ojeda, Francisco, Fernández-Fernández, Marta, de Lucas-Collantes, Carmen, Gil, Marta, Luis-Yanes, María Isabel, Vergara, Inés, González-Rodríguez, Juan David, Ferrando, Susana, Antón-Gamero, Montserrat, Carrasco Hidalgo-Barquero, Marta, Fernández-Escribano, Angustias, Fernández-Maseda, Mº Ángeles, Espinosa, Laura, Oliet, Aniana, Vicente, Antonio, Ariceta, Gema, Santos, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912818/
https://www.ncbi.nlm.nih.gov/pubmed/33639975
http://dx.doi.org/10.1186/s13023-021-01729-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912818/
https://www.ncbi.nlm.nih.gov/pubmed/33639975
http://dx.doi.org/10.1186/s13023-021-01729-0

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