Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements
20号染色体短臂11.2区缺失导致FOXA2或其调控元件丢失,从而引起先天性高胰岛素血症。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01593-z
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