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Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing

Primary hyperparathyroidism (PHPT) is characterized by overproduction of parathyroid hormone and subsequent hypercalcemia. Approximately 10% of PHPT cases are hereditary, and several genes, such as MEN1, RET, CASR, and CDC73, are responsible for the familial forms of PHPT. However, other genetic mut...

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Detalles Bibliográficos
Autores principales: Park, Hye-Sun, Lee, Yeon Hee, Hong, Namki, Won, Dongju, Rhee, Yumie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109676/
https://www.ncbi.nlm.nih.gov/pubmed/35586626
http://dx.doi.org/10.3389/fendo.2022.853171