Ontology highlight
ABSTRACT:
SUBMITTER: Zheng Y
PROVIDER: S-EPMC7648675 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Zheng Yi Y Lan ChaoTing C Wang Ning N Xu Xiaogang X Hu Tuqun T Wu Qi Q Xie Xiaoli X Wang Zhe Z Zhang Yan Y Li Cong C
BioMed research international 20201031
Hirschsprung disease (HSCR) is a human birth defect at the clinical setting, usually characterized by an absent enteric nervous system (ENS) from the distal bowel. The majority of HSCR cases represent a complex disorder resulting from the interaction of multiple genetic and environmental factors. Genetic events have been described to be involved in the abnormal development of the enteric nervous system. Although variants in several genes like <i>RET</i> and <i>EDNRB</i> have been suggested to co ...[more]