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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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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 |