Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2or its regulatory elements

Autor: Laver, Thomas W., Wakeling, Matthew N., Caswell, Richard C., Bunce, Benjamin, Yau, Daphne, Männistö, Jonna M. E., Houghton, Jayne A. L., Hopkins, Jasmin J., Weedon, Michael N., Saraff, Vrinda, Kershaw, Melanie, Honey, Engela M., Murphy, Nuala, Giri, Dinesh, Nath, Stuart, Tangari Saredo, Ana, Banerjee, Indraneel, Hussain, Khalid, Owens, Nick D. L., Flanagan, Sarah E.

Publikováno v: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-6, 6p

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Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.

Autor: Laver TW; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Wakeling MN; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Caswell RC; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Bunce B; The Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Yau D; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK.; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK., Männistö JME; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK.; Department of Health Sciences, School of Medicine, University of Eastern Finland, Kuopio, Finland., Houghton JAL; The Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Hopkins JJ; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Weedon MN; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Saraff V; Department of Paediatric Endocrinology and Diabetes, Birmingham Women's and Children's Hospital, Birmingham, UK., Kershaw M; Department of Paediatric Endocrinology and Diabetes, Birmingham Women's and Children's Hospital, Birmingham, UK., Honey EM; Department of Biochemistry, Genetics and Microbiology, University of Pretoria, Pretoria, South Africa., Murphy N; Department of Paediatric Endocrinology, Children's University Hospital, Dublin, Ireland., Giri D; Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, Bristol, UK., Nath S; Royal Cornwall Hospital, Truro, UK., Tangari Saredo A; Division of Endocrinology, Sanatorio Güemes, Buenos Aires, Argentina., Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK., Hussain K; Department of Paediatrics, Division of Endocrinology, Sidra Medicine, Doha, Qatar., Owens NDL; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Flanagan SE; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK. S.Flanagan@exeter.ac.uk.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 813-818. Date of Electronic Publication: 2024 Apr 11.