Article
Mapping of a Hirschsprung's disease locus in 3p21.
European journal of human genetics : EJHG - 1 Jul 2008
Garcia-Barceló Maria-Mercè, Fong Pui-yee, Tang Clara S, Miao Xiao-ping, So Man-ting, Yuan Zhen-wei, Li Long, Guo Wei-hong, Liu Lei, Wang Bin, Sun Xiao-Bing, Huang Liu-Ming, Tou Jin-Fa, Wong Kenneth Kak-Yuen, Ngan Elly Sau-Wai, Lui Vincent Chi-hang, Cherny Stacey S, Sham Pak-chung, Tam Paul Kwong-hang
Abstract excerpt
Hirschsprung's disease (HSCR) is a congenital disorder in which ganglion cells are absent in variable portions of the lower digestive tract according to which patients are classified. The RET gene is the major HSCR gene, although reduced penetrance of RET mutations and variable expression of HSCR phenotype indicates that more than one gene is required. An unidentified RET-dependent modifier on 3p21 appears to be...
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