Phenotypic diversity in clinical and manometric characteristics of pediatric patients with ACTG2 mutations
Author:
Publisher
Elsevier BV
Subject
Surgery,Pediatrics, Perinatology and Child Health
Reference7 articles.
1. ACTG2-Related disorders;Wangler,2015
2. ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome;Halim;Hum Mol Genet,2016
3. Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy;Lehtonen;Gastroenterology,2012
4. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a newcause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls;Berdon;AJR Am J Roentgenol,1976
5. Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene;Milunsky;J Pediatr Gastroenterol Nutr,2017
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