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Rare Case of Pseudohypoparathyroidism With Normocalcemia Because of a Novel GNAS Mutation

PTH resistance is characterized by hypocalcemia and hyperphosphatemia in the presence of elevated PTH concentrations, resulting in pseudohypoparathyroidism, which is subdivided into different types according to its different pathogenesis and phenotype. PTH receptor is the alpha subunit of stimulator...

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Detalles Bibliográficos
Autores principales: Mangu, Goutami, Malik, Sonika, Eranki, Vijay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580659/
https://www.ncbi.nlm.nih.gov/pubmed/37908988
http://dx.doi.org/10.1210/jcemcr/luad088