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PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country

INTRODUCTION: X-linked hypophosphatemic rickets is part of a larger group of hereditary diseases characterized by renal phosphate loss, which causes growth disorders, rickets, and osteomalacia. These conditions are characterized by disorders in phosphate equilibrium, which is essential for bone form...

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Detalhes bibliográficos
Publicado no:Appl Clin Genet
Main Authors: Forero-Delgadillo, Jessica María, Cleves, Daniela, Ochoa, Vanessa, Londoño-Correa, Hernando, Restrepo, Jaime Manuel, Nastasi-Catanese, José Antonio, Pachajoa, Harry
Formato: Artigo
Idioma:Inglês
Publicado em: Dove 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7025672/
https://ncbi.nlm.nih.gov/pubmed/32104046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S232448
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