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A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia
BACKGROUND: Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule. CASE PRESENTATION: A 23-year-old woman was admitted with limb numbness, r...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296056/ https://www.ncbi.nlm.nih.gov/pubmed/30558554 http://dx.doi.org/10.1186/s12882-018-1163-3 |