Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
MYLK基因功能缺失变异导致隐性巨膀胱小结肠肠蠕动减弱综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.05.011
Halim, Danny; Brosens, Erwin; Muller, Françoise; Wangler, Michael F; Beaudet, Arthur L; Lupski, James R; Akdemir, Zeynep H Coban; Doukas, Michael; Stoop, Hans J; de Graaf, Bianca M; Brouwer, Rutger W W; van Ijcken, Wilfred F J; Oury, Jean-François; Rosenblatt, Jonathan; Burns, Alan J; Tibboel, Dick; Hofstra, Robert M W; Alves, Maria M