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7 p, 387.2 KB Variable phenotype in HNF1B mutations : extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract / Madariaga, Leire (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; García-Castaño, Alejandro (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ; Martínez-Salazar, Rosa (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; Aguayo, Aníbal (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; Castaño, Luis (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas) ; Universitat Autònoma de Barcelona
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. [...]
2018 - 10.1093/ckj/sfy102
Clinical Kidney Journal, Vol. 12 (november 2018) , p. 373-379  
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