Article
Phenotypic and genotypic characteristics of children with Bartter syndrome.
The Turkish journal of pediatrics - 1 Jan 2022
Güven Serçin, Gökçe İbrahim, Alavanda Ceren, Çiçek Neslihan, Demirci Ece Bodur, Sak Mehtap, Pul Serim, Türkkan Özde Nisa, Yıldız Nurdan, Ata Pınar, Alpay Harika
Abstract excerpt
INTRODUCTION: Bartter syndrome (BS) is a group of autosomal-recessive tubular disorders and it is classified into five genetic subtypes. BS can also be classified by phenotype (antenatal, classic). Patients with mutations in the same gene can present different phenotypes. In the present study, target gene sequencing was performed to evaluate the genotype-phenotype relationship. METHODS: Biochemical, clinical and...
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