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MON-366 X Linked Hypophosphatemic Rachitism: Case Report in Adult Patient

BACKGROUND: X linked hypophosphatemia (XLH) is a rare genetic disorder, with an estimated prevalence of 1: 20,000 live births resulting from a mutation in the PHEX gene (phosphate regulatory endopeptidase), which causes increased levels of circulating fibroblast growth factor 23 (FGF23), reducing bo...

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Detalles Bibliográficos
Autores principales: Medina, Adriana, Vargas, Juan José, Romero, Andres Florez, Coy, Andres
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208121/
http://dx.doi.org/10.1210/jendso/bvaa046.1024