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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Bibliografiset tiedot
Julkaisussa:Pediatr Diabetes
Päätekijät: Sztromwasser, Paweł, Michalak, Arkadiusz, Małachowska, Beata, Młudzik, Paulina, Antosik, Karolina, Hogendorf, Anna, Zmysłowska, Agnieszka, Borowiec, Maciej, Młynarski, Wojciech, Fendler, Wojciech
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley & Sons A/S 2020
Aiheet:
Monogenic Diabetes and Other Genetic Disorders of Glucose Metabolism
Linkit: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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