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...

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Detalles Bibliográficos
Autores principales: Yang, Wenjun, Zhao, Shaoli, Xie, Yanhong, Mo, Zhaohui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
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

Internet

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

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