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Research Article

Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene

  • Ewan R Pearson equal contributor,

    equal contributor Contributed equally to this work with: Ewan R Pearson, Sylvia F Boj, Anna M Steele

    Affiliations: Peninsula Medical School, Exeter, United Kingdom, Division of Medicine and Therapeutics, Ninewells Hospital and Medical School, University of Dundee, Dundee, United Kingdom

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  • Sylvia F Boj equal contributor,

    equal contributor Contributed equally to this work with: Ewan R Pearson, Sylvia F Boj, Anna M Steele

    Affiliations: Department of Endocrinology, Hospital Clinic de Barcelona, Barcelona, Spain, Genomic Programming of Beta Cells Laboratory, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain

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  • Anna M Steele equal contributor,

    equal contributor Contributed equally to this work with: Ewan R Pearson, Sylvia F Boj, Anna M Steele

    Affiliation: Peninsula Medical School, Exeter, United Kingdom

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  • Timothy Barrett,

    Affiliation: Institute of Child Health, Birmingham, United Kingdom

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  • Karen Stals,

    Affiliation: Peninsula Medical School, Exeter, United Kingdom

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  • Julian P Shield,

    Affiliations: Bristol Royal Hospital for Children, Bristol, United Kingdom, University of Bristol, Bristol, United Kingdom

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  • Sian Ellard,

    Affiliation: Peninsula Medical School, Exeter, United Kingdom

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  • Jorge Ferrer,

    Affiliations: Department of Endocrinology, Hospital Clinic de Barcelona, Barcelona, Spain, Genomic Programming of Beta Cells Laboratory, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain

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  • Andrew T Hattersley mail

    To whom correspondence should be addressed. E-mail: A.T.Hattersley@ex.ac.uk

    Affiliation: Peninsula Medical School, Exeter, United Kingdom

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  • Published: April 03, 2007
  • DOI: 10.1371/journal.pmed.0040118

About the Authors

Ewan R Pearson, Anna M Steele, Karen Stals, Sian Ellard, Andrew T Hattersley
Peninsula Medical School, Exeter, United Kingdom
Ewan R Pearson
Division of Medicine and Therapeutics, Ninewells Hospital and Medical School, University of Dundee, Dundee, United Kingdom
Sylvia F Boj, Jorge Ferrer
Department of Endocrinology, Hospital Clinic de Barcelona, Barcelona, Spain
Sylvia F Boj, Jorge Ferrer
Genomic Programming of Beta Cells Laboratory, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain
Timothy Barrett
Institute of Child Health, Birmingham, United Kingdom
Julian P Shield
Bristol Royal Hospital for Children, Bristol, United Kingdom
Julian P Shield
University of Bristol, Bristol, United Kingdom

Corresponding Author

Email: A.T.Hattersley@ex.ac.uk

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

ERP, SFB, AMS, SE, JF, and ATH were involved with the study design and data analysis. The mouse studies were undertaken by SFB and JF. The human molecular genetic analysis was carried out by KS and SE. All authors were involved with interpretation of the data and preparation of the manuscript.