title: A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes.
abstract: Diabetes in neonates is a monogenetic disease and genetic analysis is warranted to allow best treatment, prognosis, and genetic counseling. Transcription factor mutations may have a variable expression and different organs may be involved.
authors.affiliation: Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Campus Belval Esch-sur-Alzette, Luxembourg.
authors.forename: Serge
authors.initials: S
authors.lastname: Eifes
authors.affiliation: KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen Bergen, Norway.
authors.forename: Kishan K
authors.initials: KK
authors.lastname: Chudasama
authors.affiliation: KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen Bergen, Norway.
authors.forename: Janne
authors.initials: J
authors.lastname: Molnes
authors.affiliation: Pediatric Clinic/Centre Hospitalier de Luxembourg Luxembourg, Luxembourg.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Wagner
authors.affiliation: KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen Bergen, Norway ; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital Bergen, Norway.
authors.forename: Tuyen
authors.initials: T
authors.lastname: Hoang
authors.affiliation: Pediatric Clinic/Centre Hospitalier de Luxembourg Luxembourg, Luxembourg.
authors.forename: Ulrike
authors.initials: U
authors.lastname: Schierloh
authors.affiliation: Centre Regional Hospitalier de Liege Liege, Belgium.
authors.forename: Danielle
authors.initials: D
authors.lastname: Rocour-Brumioul
authors.affiliation: KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen Bergen, Norway ; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital Bergen, Norway.
authors.forename: Stefan
authors.initials: S
authors.lastname: Johansson
authors.affiliation: KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen Bergen, Norway ; Department of Pediatrics, Haukeland University Hospital Bergen, Norway ; Broad Institute of Harvard and MIT Cambridge, Massachusetts.
authors.forename: Pål R
authors.initials: PR
authors.lastname: Njølstad
authors.affiliation: Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Campus Belval Esch-sur-Alzette, Luxembourg ; Pediatric Clinic/Centre Hospitalier de Luxembourg Luxembourg, Luxembourg.
authors.forename: Carine
authors.initials: C
authors.lastname: de Beaufort
keywords: Exocrine pancreas dysfunction; GATA6; heart malformation; intrauterine growth retardation; neonatal diabetes; transcription factor mutation