Article
RET somatic mutations are underrecognized in Hirschsprung disease.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2018
Jiang Qian, Liu Fang, Miao Chunyue, Li Qi, Zhang Zhen, Xiao Ping, Su Lin, Yu Kaihui, Chen Xiaoli, Zhang Feng, Chakravarti Aravinda, Li Long
Abstract excerpt
PURPOSE: We aimed to determine the frequency of RET mosaicism in Hirschsprung disease (HSCR), test whether it has been underestimated, and to assess its contribution to HSCR risk. METHODS: Targeted exome sequencing (n = 83) and RET single-gene screening (n = 69) were performed. Amplicon-based deep sequencing was applied on multiple tissue samples. TA cloning and sequencing were conducted for validation. RESULTS:...
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