Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

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.

期刊名称The American Journal of Human Genetics
作者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.
印刷ISSN0002-9297
文件大小1105.12KB
发表时间2017-6
DOI10.1016/j.ajhg.2017.05.011

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Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome