AB071. Semaphorin 3D impact in Indonesian Hirschsprung patients

摘要

BackgroundHirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along the intestines, results in functional bowel obstruction in children. Recently, Semaphorin 3D (SEMA3D) gene has been implicated in the pathogenesis of intestinal ganglionosis. We aimed to conduct a mutation analysis of SEMA3D gene in HSCR patients in Indonesia, a genetically distinct group within Asia.