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Article

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

Pediatric diabetes - 1 May 2020

Sztromwasser Paweł, Michalak Arkadiusz, Małachowska Beata, Młudzik Paulina, Antosik Karolina, Hogendorf Anna, Zmysłowska Agnieszka, Borowiec Maciej, Młynarski Wojciech, Fendler Wojciech

Abstract excerpt

BACKGROUND/OBJECTIVES: 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. METHODS: Probands tested for HNF1B mutations in the 2005-2018 period (N = 50)...

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Identifiers

PMID: 31825128
DOI: 10.1111/pedi.12959
PMCID: PMC7217165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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