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Novel SLC12A3 mutation in Gitelman syndrome
Gitelman syndrome (GS) is an autosomal recessive disease characterised by the presence of hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. The prevalence of this disease is 1–10/40 000. GS is usually associated with mild and non-specific symptoms and many patients are only di...
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| Pubblicato in: | BMJ Case Rep |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Publishing Group
2021
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7813350/ https://ncbi.nlm.nih.gov/pubmed/33462018 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-238097 |
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