A common, sex-dependent mutation in a putative RET enhancer underlies Hirschsprung disease susceptibility.

Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, NISC Comparative Sequencing Program, Cutler DJ, Green ED, Chakravarti A: A common, sex-dependent mutation in a putative RET enhancer underlies Hirschsprung disease susceptibility. Nature 434:857-863, 2005. PMID 15829955.