Background/Objectives: Hepatocyte nuclear factor 1 beta (HNF1B)-associated disease is a major monogenic cause of pediatric cystic kidney disease. This study characterized the clinical, genetic, renal, and extrarenal spectrum of HNF1B-associated disease in a nationwide Greek pediatric cohort, with emphasis on renal func...
J. Dotis, A. Zampetoglou, V. Askiti et al.· Journal of Clinical Medicine· 0 citations
To assess Left Ventricular Global Longitudinal Strain (LV GLS) in youths with type 1 diabetes mellitus (T1DM) compared with healthy controls, as a marker of subclinical myocardial dysfunction.
Using these four scenarios, this narrative review illustrates how structured phenotyping, pedigree analysis, biochemical evaluation, and appropriately selected genomic testing can establish etiology, revise diagnoses, and guide clinical decision-making.
J. Dotis, Nikoleta Printza· Genes· 0 citations
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