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Genotype-phenotype correlations in children with Gitelman syndrome.

Clinical and experimental nephrology - 1 Aug 2024

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

Abstract excerpt

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 was performed using the Sanger sequencing except for one patient. RESULTS: The median age at the diagnosis was...

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PMID: 38478191
DOI: 10.1007/s10157-024-02474-x

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