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SAT-368 CYP24A1 Mutation Masking Malignancy Mediated Hypercalcemia

Background: Mutations in CYP24A1, resulting in reduced conversion of 1,25(OH)(2)D to its inactive metabolite 24,25-(OH)(2)D(3),are rare causes of parathyroid hormone (PTH)-independent hypercalcemia. While manifestations may range from the severe idiopathic infantile hypercalcemia due to biallelic mu...

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Detalles Bibliográficos
Autores principales: Cheng, Cheng, Liu, Chienying, Bikle, Daniel D, Shoback, Dolores M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208999/
http://dx.doi.org/10.1210/jendso/bvaa046.353