Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1 

Abstract excerpt

Mutations in the gene encoding the transcription factor hepatocyte nuclear factor (HNF)-1β have recently been described in association with a variety of abnormalities of renal development. The most consistent clinical feature is the presence of renal cysts and most affected subjects also have early-onset diabetes. The association of renal cysts and diabetes with an HNF-1β mutation is termed the renal cysts and...

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