Two Brothers from Macedonia with Gitelman Syndrome

Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the SLC12A3 gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, b...

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Detalles Bibliográficos
Autores principales: Janchevska, A, Tasic, V, Jordanova, O, Gucev, Z, Jenkins, L, Jovanovska, N, Plaseska-Karanfilska, D, Ashton, E, Bockenhauer, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413880/
https://www.ncbi.nlm.nih.gov/pubmed/37576796
http://dx.doi.org/10.2478/bjmg-2023-0009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10413880/
https://www.ncbi.nlm.nih.gov/pubmed/37576796
http://dx.doi.org/10.2478/bjmg-2023-0009

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