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    De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

    Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS) is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction, requiring extensive surgical intervention ...

    Willa Thorson, Oscar Diaz-Horta, Joseph Foster II, Michail Spiliopoulos… in Human Genetics (2014)