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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...

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Detalles Bibliográficos
Autores principales: Huang, Shaohan, He, Yingzi, Lin, Xihua, Sun, Shuiya, Zheng, Fenping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
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