Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.
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| Title: | Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses. |
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| Authors: | Männistö JME; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.; Kuopio Pediatric Research Unit, Faculty of Health Sciences, School of Medicine, University of Eastern Finland, 70211 Kuopio, Finland., Hopkins JJ; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Hewat TI; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Nasser F; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Burrage J; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Dastamani A; Endocrinology Department, Great Ormond Street Hospital for Children, London WC1N 3JH, UK., Mirante A; Pediatric Endocrinology, Hospital Pediátrico de Coimbra, ULS de Coimbra, 3000-602 Coimbra, Portugal., Murphy N; Department of Paediatric Endocrinology, CHI Temple St, Dublin, D01 XD99, Ireland., Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada., Johnson MB; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Laver TW; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Weymouth L; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Houghton JAL; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK., Wakeling MN; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6C 2R6, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 5C1, Canada., Dempster EL; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Flanagan SE; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter EX2 5DW, UK. |
| Source: | The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2025 Apr 22; Vol. 110 (5), pp. e1524-e1530. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1945-7197 |
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| DOI: | 10.1210/clinem/dgae524 |
