Publications

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Author Title [ Year(Desc)]
Filters: Author is Wangler, Michael F and Keyword is Abnormalities, Multiple  [Clear All Filters]
2014
Wangler, M. F. et al. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet 10, e1004258 (2014).
2017
Halim, D. et al. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. Am J Hum Genet 101, 123-129 (2017).