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

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