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Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations

Autosomal dominant hypocalcemia (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of parathyroid hormone. The disease is caused by a heterozygous activating mutation of the calcium-sensing receptor (CaSR) gene, encoding a G-Protein-coupled cell...

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Detalles Bibliográficos
Autores principales:	Ali, Dalal S., Marini, Francesca, Alsarraf, Farah, Alalwani, Hatim, Alamri, Abdulrahman, Khan, Aliya A., Brandi, Maria Luisa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466028/ https://www.ncbi.nlm.nih.gov/pubmed/37654565 http://dx.doi.org/10.3389/fendo.2023.1215036

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