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Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature
BACKGROUND: Pseudohypoparathyroidism (PHP) encompasses a highly heterogenous group of disorders, characterized by parathyroid hormone (PTH) resistance caused by mutations in the GNAS gene or other upstream targets. Here, we investigate the characteristics of a female patient diagnosed with PHP compl...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9004107/ https://www.ncbi.nlm.nih.gov/pubmed/35410271 http://dx.doi.org/10.1186/s12902-022-01011-9 |