A deleterious recessive mutation in NUAK2 causes absence of brain in humans
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DOI: 10.1016/j.mod.2017.04.025
Abstract: Hirschsprung disease (HSCR) is a complex developmental disorder characterised by the lack of enteric neurons in distal portions of the gut. Importantly, HSCR presents a dramatic sex bias with at least 4 times more males… read more here.
Keywords: deleterious recessive; sex bias; recessive mutation; sex ... See more keywords