Genotype–phenotype correlations in children with Gitelman syndrome

Background This study aimed to analyze genotype–phenotype correlations in children with Gitelman syndrome (GS). Methods This multicenter retrospective study included 50 Korean children diagnosed with SLC12A3 variants in one or both alleles and the typical laboratory findings of GS. Genetic testing w...

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Veröffentlicht in:	Clinical and experimental nephrology 2024-08, Vol.28 (8), p.803-810
Hauptverfasser:	Cho, Myung Hyun, Park, Peong Gang, Kim, Ji Hyun, Jang, Kyung Mi, Lee, Jiwon M., Yang, Eun Mi, Park, Se Jin, Suh, Jin-Soon, Cho, Heeyeon, Lee, Jung Won, Lee, Joo Hoon, Koo, Ja Wook, Namgoong, Mee Kyung, Kim, Kee Hyuck, Ahn, Yo Han, Kang, Hee Gyung, Cheong, Hae Il
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Alkalosis Alleles Children Creatinine Genetic testing Genotype & phenotype Genotypes Hypokalemia Kidney diseases Medicine Medicine & Public Health Metabolism Nephrology Original Article Patients Phenotypes Potassium Urology
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