title: A novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) gene mutation, presenting with neonatal cholestasis.
authors: Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
authors: Aleida G M
authors: AG
authors: de Vries
authors: Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
authors: Willie M
authors: WM
authors: Bakker-van Waarde
authors: Department of Pediatrics, Deventer Hospital, Deventer, The Netherlands.
authors: Anne C M
authors: AC
authors: Dassel
authors: Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors: Monique
authors: M
authors: Losekoot
authors: Department of Pathology and Laboratory Medicine, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
authors: Evelien W
authors: EW
authors: Duiker
authors: Department of Pathology and Laboratory Medicine, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
authors: Annette S H
authors: AS
authors: Gouw
authors: Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: f.a.j.a.bodewes@umcg.nl.
authors: Frank A J A
authors: FA
authors: Bodewes
mesh_terms: D002779:Cholestasis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing / Q000379:methods; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D051538:Hepatocyte Nuclear Factor 1-alpha; D004247:DNA