Simultaneous Homozygous Mutations in SLC12A3 and CLCNKB in an Inbred Chinese Pedigree

Gitelman syndrome (GS) and Bartter syndrome (BS) type III are both rare, recessively inherited salt-losing tubulopathies caused by SLC12A3 and CLCNKB mutations, respectively. We described a 48-year-old male patient with fatigue, carpopedal spasm, arthralgia, hypokalemic alkalosis, mild renal dysfunc...

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Detalles Bibliográficos
Autores principales: Mou, Lijun, Wu, Fengfen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7999423/
https://www.ncbi.nlm.nih.gov/pubmed/33807568
http://dx.doi.org/10.3390/genes12030369

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7999423/
https://www.ncbi.nlm.nih.gov/pubmed/33807568
http://dx.doi.org/10.3390/genes12030369

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