Case Report: Unusual Presentations of Loss-of-Function Mutations of the Calcium-Sensing Receptor

BACKGROUND: In recent years, heterozygous loss-of-function mutations of the Calcium Sensing Receptor gene (CaSR) were implicated in different hypercalcemic syndromes besides familial hypocalciuric hypercalcemia (FHH), including neonatal severe primary hyperparathyroidism (NSHPT) and primary hyperpar...

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Detalles Bibliográficos
Autores principales: Palmieri, Serena, Grassi, Giorgia, Guarnieri, Vito, Chiodini, Iacopo, Arosio, Maura, Eller-Vainicher, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818680/
https://www.ncbi.nlm.nih.gov/pubmed/35141253
http://dx.doi.org/10.3389/fmed.2021.809067

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8818680/
https://www.ncbi.nlm.nih.gov/pubmed/35141253
http://dx.doi.org/10.3389/fmed.2021.809067

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