TY  - JOUR
AU  - Rodríguez-Rubio, Enrique
AU  - Gil-Peña, Helena
AU  - Chocron, Sara
AU  - Madariaga, Leire
AU  - de la Cerda-Ojeda, Francisco
AU  - Fernández-Fernández, Marta
AU  - de Lucas-Collantes, Carmen
AU  - Gil, Marta
AU  - Luis-Yanes, María Isabel
AU  - Vergara, Inés
AU  - González-Rodríguez, Juan David
AU  - Ferrando, Susana
AU  - Antón-Gamero, Montserrat
AU  - Carrasco Hidalgo-Barquero, Marta
AU  - Fernández-Escribano, Angustias
AU  - Fernández-Maseda, Mº Ángeles
AU  - Espinosa, Laura
AU  - Oliet, Aniana
AU  - Vicente, Antonio
AU  - Ariceta, Gema
AU  - Santos, Fernando
AU  - RenalTubeGroup
PY  - 2021
DO  - 10.1186/s13023-021-01729-0
UR  - http://hdl.handle.net/10668/17248
T2  - Orphanet journal of rare diseases
AB  - 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,...
LA  - en
KW  - Bone deformities
KW  - Growth retardation
KW  - Inherited hypophosphatemia
KW  - Rickets
KW  - XLH
KW  - Child
KW  - Child, Preschool
KW  - Familial Hypophosphatemic Rickets
KW  - Female
KW  - Genetic Diseases, X-Linked
KW  - Humans
KW  - Hypophosphatemia
KW  - Male
KW  - Mutation
KW  - PHEX Phosphate Regulating Neutral Endopeptidase
KW  - Retrospective Studies
TI  - Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population.
TY  - research article
VL  - 16
ER  -