Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature

INTRODUCTION: Loss of function mutations of CYP24A1 gene, which is involved in vitamin D catabolism, cause vitamin D-mediated PTH-independent hypercalcemia. The phenotype varies from life-threatening forms in the infancy to milder forms in the adulthood. CASE PRESENTATION: We report a case of a 17-y...

Descripción completa

Detalles Bibliográficos
Autores principales: Cappellani, Daniele, Brancatella, Alessandro, Kaufmann, Martin, Minucci, Angelo, Vignali, Edda, Canale, Domenico, De Paolis, Elisa, Capoluongo, Ettore, Cetani, Filomena, Jones, Glenville, Marcocci, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476011/
https://www.ncbi.nlm.nih.gov/pubmed/31089432
http://dx.doi.org/10.1155/2019/4982621

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476011/
https://www.ncbi.nlm.nih.gov/pubmed/31089432
http://dx.doi.org/10.1155/2019/4982621

Ejemplares similares