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References from Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS) due to a de novo ACTG2 mutation: A neonatal case report. Local targets link to admitted publications; unresolved targets remain external evidence.
Megacystis–microcolon–intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn
10.1148/radiology.150.3.6695068 · 1976 · External reference
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
10.1371/journal.pgen.1004258 · 2014 · External reference
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
10.1007/s00439-013-1406-0 · 2014 · External reference
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy
10.1053/j.gastro.2012.08.045 · 2012 · External reference
Expanding the genotypic spectrum of ACTG2-related visceral myopathy
10.1101/mcs.a006085 · 2021 · External reference
The diverse phenotype of intestinal dysmotility secondary to ACTG2-related disorders
10.1097/mpg.0000000000003400 · 2022 · External reference
Megacystis microcolon intestinal hypoperistalsis syndrome
10.1053/j.sempedsurg.2004.10.026 · 2005 · External reference
The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group
10.1136/gut.2009.200444 · 2010 · External reference
Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome
10.1007/s00383-011-2954-9 · 2011 · External reference
Predicting intestinal adaptation in pediatric intestinal failure: a retrospective cohort study
10.1097/sla.0000000000002602 · 2019 · External reference