Article
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
Human genetics - 1 Jun 2014
Thorson Willa, Diaz-Horta Oscar, Foster Joseph, Spiliopoulos Michail, Quintero Rubén, Farooq Amjad, Blanton Susan, Tekin Mustafa
Abstract excerpt
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction, requiring extensive surgical intervention for survival. While it is believed to be an autosomal recessive disorder, most cases are sporadic. Through whole-exome sequencing in a child with MMIHS, we identified a de novo mutation, p.R178L, in the gene...
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