Ontology highlight
ABSTRACT:
SUBMITTER: Zhao J
PROVIDER: S-EPMC6402522 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Zhao Jinglu J Zhu Yun Y Xie Xiaoli X Yao Yuxiao Y Zhang Jiao J Zhang Ruizhong R Huang Lihua L Cheng Jiwen J Xia Huimin H He Jing J Zhang Yan Y
Aging 20190201 4
Hirschsprung disease (HSCR) is a heterogeneous congenital disorder that affects the enteric nervous system, while neuroblastoma is an embryonal tumor of the sympathetic nervous system. Familial cases of both HSCR and neuroblastoma appear to be functionally linked to <i>PHOX2B</i>, which plays a key role in the development of neural crest derivatives. However, the association between common <i>PHOX2B</i> variants and disease risk is contested. Additionally, large-scale examination for pleiotropy ...[more]