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

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...

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Dettagli Bibliografici
Pubblicato in:Pediatr Diabetes
Autori principali: Sztromwasser, Paweł, Michalak, Arkadiusz, Małachowska, Beata, Młudzik, Paulina, Antosik, Karolina, Hogendorf, Anna, Zmysłowska, Agnieszka, Borowiec, Maciej, Młynarski, Wojciech, Fendler, Wojciech
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley & Sons A/S 2020
Soggetti:
Monogenic Diabetes and Other Genetic Disorders of Glucose Metabolism
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7217165/
https://ncbi.nlm.nih.gov/pubmed/31825128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pedi.12959
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