A cross‐sectional study of patients referred for HNF1B‐MODY genetic testing due to cystic kidneys and diabetes

Abstract

Patients referred for HNF1B testing present very heterogeneous phenotypes. Despite suggestive characteristics, many do not harbor mutations in HNF1B. Our objective was to evaluate the clinical characteristics of probands referred for HNF1B genetic testing through a nationwide monogenic diabetes screening program.