Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review

Hepatocyte nuclear factor 1-β (HNF1B) defects cause renal cysts and diabetes syndrome (RCAD), or HNF1B-maturity-onset diabetes of the young. However, the hepatic phenotype of HNF1B variants is not well studied. We present a female neonate born small for her gestational age [birth weight 2360 g; -2.0...

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Bibliographic Details
Published in:World J Gastroenterol
Main Authors: Kotalova, Radana, Dusatkova, Petra, Cinek, Ondrej, Dusatkova, Lenka, Dedic, Tomas, Seeman, Tomas, Lebl, Jan, Pruhova, Stepanka
Format: Artigo
Language:Inglês
Published: Baishideng Publishing Group Inc 2015
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4342936/
https://ncbi.nlm.nih.gov/pubmed/25741167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.v21.i8.2550
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