Article
The role of hepatocyte nuclear factor 1β in disease and development.
Diabetes, obesity & metabolism - 1 Sept 2016
El-Khairi R, Vallier L
Abstract excerpt
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1β (HNF1B) result in a multi-system disorder. HNF1B was initially discovered as a monogenic diabetes gene; however, renal cysts are the most frequently detected feature. Other clinical features include pancreatic hypoplasia and exocrine insufficiency, genital tract malformations, abnormal liver function, cholestasis...
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