Severe Hypercalcemia Due to Primary Hyperparathyroidism and Heterozygous Pathogenic Variant of CYP24A1

Pathogenic variants of CYP24A1 are associated with hypercalcemia due to disruptions in the ability of 24-hydroxylase to break down 1,25-dihydroxyvitamin D (1,25-DHVD). A case involving a heterozygous pathogenic variant of CYP24A1 and primary hyperparathyroidism leading to severe hypercalcemia has no...

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Detalles Bibliográficos
Autores principales: Liu, Jannel, Angelos, Peter, Barhoum, Maan, Jain, Rajesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578407/
https://www.ncbi.nlm.nih.gov/pubmed/37909006
http://dx.doi.org/10.1210/jcemcr/luad071

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578407/
https://www.ncbi.nlm.nih.gov/pubmed/37909006
http://dx.doi.org/10.1210/jcemcr/luad071

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