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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Detalhes bibliográficos
Publicado no:Pediatr Diabetes
Main Authors: Sztromwasser, Paweł, Michalak, Arkadiusz, Małachowska, Beata, Młudzik, Paulina, Antosik, Karolina, Hogendorf, Anna, Zmysłowska, Agnieszka, Borowiec, Maciej, Młynarski, Wojciech, Fendler, Wojciech
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons A/S 2020
Assuntos:
Monogenic Diabetes and Other Genetic Disorders of Glucose Metabolism
Acesso em linha: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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