Ontology highlight
ABSTRACT:
SUBMITTER: Tang CS
PROVIDER: S-EPMC3024406 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Tang Clara Sze-Man CS Tang Wai-Kiu WK So Man-Ting MT Miao Xiao-Ping XP Leung Brian Man-Chun BM Yip Benjamin Hon-Kei BH Leon Thomas Yuk-Yu TY Ngan Elly Sau-Wai ES Lui Vincent Chi-Hang VC Chen Yan Y Chan Ivy Hau-Yee IH Chung Patrick Ho-Yu PH Liu Xue-Lai XL Wu Xuan-Zhao XZ Wong Kenneth Kak-Yuen KK Sham Pak-Chung PC Cherny Stacey S SS Tam Paul Kwong-Hang PK Garcia-Barceló Maria-Mercè MM
PloS one 20110120 1
The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis) is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precursors along the developing gut. RET is a key regulator of the development of the enteric nervous system (ENS) and the major HSCR-causing gene. Yet the reduced penetrance of RET DNA HSCR-associated variants together with the phenotypic variability sugg ...[more]