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.

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Abstracts.

Publikováno v: Hormone Research in Paediatrics; 2016 Supplement, Vol. 86, p1-100, 110p, 23 Charts

XXIV Annual Meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP). Playa del Carmen, Riviera Maya, Mexico, August 27-30, 2014: Abstracts.

Publikováno v: Hormone Research in Paediatrics; Sep2014 Supplement 2, Vol. 82, p1-45, 45p, 1 Diagram, 24 Charts, 2 Graphs