Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

BACKGROUND: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described. Variable penetrance and intrafamilial variability have been demonstrate...

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Detalles Bibliográficos
Autores principales: Madariaga, Leire, García-Castaño, Alejandro, Ariceta, Gema, Martínez-Salazar, Rosa, Aguayo, Aníbal, Castaño, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Genetic Kidney Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543961/
https://www.ncbi.nlm.nih.gov/pubmed/31198537
http://dx.doi.org/10.1093/ckj/sfy102

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543961/
https://www.ncbi.nlm.nih.gov/pubmed/31198537
http://dx.doi.org/10.1093/ckj/sfy102

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