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Article

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

World journal of gastroenterology - 28 Feb 2015

Kotalova Radana, Dusatkova Petra, Cinek Ondrej, Dusatkova Lenka, Dedic Tomas, Seeman Tomas, Lebl Jan, Pruhova Stepanka

Abstract excerpt

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; -2.02 standard deviations (SD) and birth length 45 cm; -2.40 SD at the 38(th) gestational week]. She developed neonatal...

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Identifiers

PMID: 25741167
DOI: 10.3748/wjg.v21.i8.2550
PMCID: PMC4342936

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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