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Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review

BACKGROUND: Gitelman syndrome (GS) is a rare inherited autosomal recessive tubulopathy, characterized clinically by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis, and is caused by an inactivating mutation in SLC12A3. GS is prone to misdiagnosis when occurring simultaneously wit...

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Detalles Bibliográficos
Autores principales:	Qin, Yong-Zhang, Liu, Yan-Ming, Wang, Yang, You, Cong, Li, Long-Nian, Zhou, Xue-Yan, Lv, Wei-Min, Hong, Shi-Hua, Xiao, Li-Xia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9353888/ https://www.ncbi.nlm.nih.gov/pubmed/36158002 http://dx.doi.org/10.12998/wjcc.v10.i21.7483

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