Neonatal Cholestatic Jaundice as the First Symptom of a Mutation in the Hepatocyte Nuclear Factor-1β gene (HNF-1β)
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference10 articles.
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2. Clinical spectrum associated with hepatocyte nuclear factor-1βeta mutations;Bellanné-Chantelot;Ann Intern Med,2004
3. Mutations in hepatocyte nuclear factor-1b and their related phenotype;Edghill;J Med Genet,2006
4. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort;Ulinski;J Am Soc Nephrol,2006
5. Promoter-specific repression of hepatocyte nuclear factor (HNF)-1b and HNF-1a transcriptional activity by an HNF-1b missense mutant associated with type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations;Kitanaka;J Clin Endocrinol Metab,2004
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1. Late-onset Cholestasis with Paucity of Portal Area Secondary to HNF1β Deficiency in Adulthood: A Case Report;Journal of Clinical and Translational Hepatology;2024-02-19
2. The HNF1B mutations and deletion associated with diabetes and their resulting diabetic phenotypes: a systematic review;International Journal of Diabetes in Developing Countries;2024-02-07
3. A rare cause of transient neonatal diabetes mellitus: Spontaneous HNF1B splice variant;Diabetic Medicine;2023-09-18
4. The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored;Cells;2023-01-13
5. Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes;Genes;2022-01-09
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