Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of FOXA2
Thomas William Laver, Matthew Neil Wakeling, Richard C. Caswell, Benjamin Bunce, Daphne Yau, Jonna M. E. Männistö, Jayne Houghton, Jasmin J. Hopkins, Michael N. Weedon, Vrinda Saraff, Melanie Kershaw, Engela Magdalena Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, , Sarah Elizabeth Flanagan
The paper identifies chromosome 20p11.2 deletions as a cause of congenital hyperinsulinism by disrupting FOXA2 expression in pancreatic beta-cells.
European Journal of Human Genetics · Apr 11, 2024Peer-reviewedGenetic & Genomic Medicine