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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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Vydáno v:Appl Clin Genet
Hlavní autoři: Forero-Delgadillo, Jessica María, Cleves, Daniela, Ochoa, Vanessa, Londoño-Correa, Hernando, Restrepo, Jaime Manuel, Nastasi-Catanese, José Antonio, Pachajoa, Harry
Médium: Artigo
Jazyk:Inglês
Vydáno: Dove 2020
Témata:
On-line přístup: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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