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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Bibliografiska uppgifter
I publikationen:Appl Clin Genet
Huvudupphovsmän: Forero-Delgadillo, Jessica María, Cleves, Daniela, Ochoa, Vanessa, Londoño-Correa, Hernando, Restrepo, Jaime Manuel, Nastasi-Catanese, José Antonio, Pachajoa, Harry
Materialtyp: Artigo
Språk:Inglês
Publicerad: Dove 2020
Ämnen:
Case Report
Länkar: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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