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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Veröffentlicht in:Appl Clin Genet
Hauptverfasser: Forero-Delgadillo, Jessica María, Cleves, Daniela, Ochoa, Vanessa, Londoño-Correa, Hernando, Restrepo, Jaime Manuel, Nastasi-Catanese, José Antonio, Pachajoa, Harry
Format: Artigo
Sprache:Inglês
Veröffentlicht: Dove 2020
Schlagworte:
Case Report
Online Zugang: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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