Ontology highlight
ABSTRACT:
SUBMITTER: Jiang Q
PROVIDER: S-EPMC6822467 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Jiang Qian Q Wang Yang Y Li Qi Q Zhang Zhen Z Xiao Ping P Wang Hui H Liu Na N Wu Jian J Zhang Feng F Chakravarti Aravinda A Cai Wei W Li Long L
Orphanet journal of rare diseases 20191030 1
<h4>Background</h4>Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by the absence of enteric ganglia in the distal part of the gut. RET is the major causative gene and contains > 80% of all known disease-causing mutations.<h4>Results</h4>To determine the incidence of RET pathogenic variants, be they Mendelian inherited, mosaic in parents or true de novo variants (DNVs) in 117 Chinese families, we used high-coverage NGS and droplet digital polymerase chain reaction ( ...[more]