| 1 | MMIH3, MYLK |
| 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, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM. | |
| Am J Hum Genet 101(1):123-129. doi: 10.1016/j.ajhg.2017.05.011. Epub 2017 Jun 8. 2017 | |