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Complicated Gitelman syndrome and autoimmune thyroid disease: a case report with a new homozygous mutation in the SLC12A3 gene and literature review

BACKGROUND: Gitelman syndrome (GS) is an inherited autosomal recessive renal tubular disorder characterized by low levels of potassium and magnesium in the blood, decreased excretion of calcium in the urine, and elevated blood pH. GS is caused by an inactivating mutation in the SLC12A3 gene, which i...

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Detalles Bibliográficos
Autores principales: Zhou, Haiyang, Liang, Xinhuan, Qing, Yingfen, Meng, Bihui, Zhou, Jia, Huang, Song, Lu, Shurong, Huang, Zhenxing, Yang, Haiyan, Ma, Yan, Luo, Zuojie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225570/
https://www.ncbi.nlm.nih.gov/pubmed/30409157
http://dx.doi.org/10.1186/s12902-018-0298-3