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Type 1 Familial Hypocalciuric Hypercalcemia Caused by p.M74L Variant in the Calcium Sensing Receptor (CASR) Gene

Background: Familial hypocalciuric hypercalcemia (FHH) is a rare cause of hypercalcemia caused by inactivating mutations in specific regions of chromosome 3 and 19. Most cases are due to inactivating mutations in the Calcium sensing receptor (CASR) which is encoded by the gene located on the long ar...

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Detalles Bibliográficos
Autores principales:	Antony, McAnto, Maliakal, Alvin, Burdette, Jameson, Verma, Vipin, Kant, Ravi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2021
Materias:	Bone and Mineral Metabolism
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089205/ http://dx.doi.org/10.1210/jendso/bvab048.467

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