HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum.

Abstract excerpt

Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1β (HNF1B) represent the most common known monogenic cause of developmental kidney disease. Renal cysts are the most frequently detected feature of HNF1B-associated kidney disease; however, other structural abnormalities, including single kidneys and renal hypoplasia, and electrolyte abnormalities can also occur....

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• Kidney Diseases
• Mutation
• Hepatocyte Nuclear Factor 1-beta
• Pancreatic and Hepatic Oncology Research
• Pancreatic function and diabetes