Cargando…
The genetic spectrum of Gitelman(-like) syndromes
Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are explained by mutations and deletions in the SLC12A3 gene, encoding the Na(+)-Cl(−)-co-transporter (NCC). Recently, additional genet...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2022
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9415222/ https://www.ncbi.nlm.nih.gov/pubmed/35894287 http://dx.doi.org/10.1097/MNH.0000000000000818 |