Population Differences in the Epidemiology, Phenotype, and Genetics of Hirschsprung Disease in the United States
Black HSCR patients in the U.S. have a higher incidence accompanied by milder clinical presentation and distinct noncoding regulatory SOX10 variants as compared to White patients, demonstrating, for the first time, that Blacks are severely under-represented in U.S. studies of HSCR leading to significant health disparit...