Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.


The major gene for Hirschsprung disease (HSCR) encodes the receptor tyrosine kinase RET. In a study of 690 European- and 192 Chinese-descent probands and their parents or controls, we demonstrate the ubiquity of a >4-fold susceptibility from a C-->T allele (rs2435357: p = 3.9 x 10(-43) in European ancestry; p = 1.1 x 10(-21) in Chinese samples) that… (More)
DOI: 10.1016/j.ajhg.2010.06.007


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