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Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions

16 May 2024

Abstract excerpt

Introduction Hepatocyte nuclear factor 1-beta ( HNF1B) gene variants or the chromosome 17q12 deletion (17q12del) represent the most common monogenic cause of developmental kidney disease. Although neurodevelopmental disorders have been associated with the 17q12del, specific genotype-phenotype associations with respect to kidney function evolution have not yet been fully defined. Here we aimed to determine whether...

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PMID: 39156164
DOI: 10.1016/j.ekir.2024.05.007

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