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

Halim, D; Brosens, E; Muller, F; Wangler, MF; Beaudet, AL; Lupski, JR; Akdemir, ZHC; Halim, D; Brosens, E; Muller, F; Wangler, MF; Beaudet, AL; Lupski, JR; Akdemir, ZHC; Doukas, M; Stoop, HJ; de Graaf, BM; Brouwer, RWW; van Ijcken, WFJ; Oury, J-F; Rosenblatt, J; Burns, AJ; Tibboel, D; Hofstra, RMW; Alves, MM; - view fewer (2017) Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet , 101 (1) pp. 123-129. 10.1016/j.ajhg.2017.05.011 .

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