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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Detalles Bibliográficos
Autores principales: Sztromwasser, Paweł, Michalak, Arkadiusz, Małachowska, Beata, Młudzik, Paulina, Antosik, Karolina, Hogendorf, Anna, Zmysłowska, Agnieszka, Borowiec, Maciej, Młynarski, Wojciech, Fendler, Wojciech
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons A/S 2020
Materias:
Monogenic Diabetes and Other Genetic Disorders of Glucose Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217165/
https://www.ncbi.nlm.nih.gov/pubmed/31825128
http://dx.doi.org/10.1111/pedi.12959

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217165/
https://www.ncbi.nlm.nih.gov/pubmed/31825128
http://dx.doi.org/10.1111/pedi.12959

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