Format

Send to

Choose Destination
See comment in PubMed Commons below
J Pediatr. 2007 Mar;150(3):313-4.

Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).

Author information

  • 1Department of Pediatrics, Division of Pediatric Endocrinology, Catholic University of Louvain, Yvoir, Belgium. dominique.beckers@pedi.ucl.ac.be

Abstract

This report describes the phenotype of a novel de novo heterozygous frameshift mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta or TCF2) manifest as a neonatal paucity of intrahepatic bile ducts. HNF-1beta mutations should be considered in neonates with cholestatic jaundice associated with renal malformation or diabetes mellitus.

PMID:
17307554
DOI:
10.1016/j.jpeds.2006.12.006
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center