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"Megacystis-microcolon-intestinal" hypoperistalsis syndrome 1
- ... hypoperistalsis syndrome MMIH syndrome MMIHS Genetic Testing Registry: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 Genetic Testing Registry: Megacystis-microcolon-intestinal hypoperistalsis syndrome ...
- ... MM. ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ ...
- ... Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet. 2017 Jul 6;101(1):123-129. doi: 10.1016/j.ajhg.2017. ...