Two Brothers from Macedonia with Gitelman Syndrome
Two Brothers from Macedonia with Gitelman Syndrome
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Publisher
Poland: Sciendo
Journal title
Language
English
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Publication information
Publisher
Poland: Sciendo
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Scope and Contents
Contents
Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the
gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, but can be distinguished by molecular genetic analysis.<...
Alternative Titles
Full title
Two Brothers from Macedonia with Gitelman Syndrome
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TN_cdi_doaj_primary_oai_doaj_org_article_0f5cbda263c342cc9776873b4f80254c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0f5cbda263c342cc9776873b4f80254c
Other Identifiers
ISSN
2199-5761,1311-0160
E-ISSN
2199-5761
DOI
10.2478/bjmg-2023-0009
