Associated Papers
Actg2D245G Mutation Causes Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome by Impairing Smooth Muscle Contractility.
Zhou J et al.
Journal of Pediatric Surgery, 2025
Clinical and Pathological Features of Severe Gut Dysmotility.
Bianco F et al.
Advances in Experimental Medicine and Biology, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients.
Wei Z et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.
Collins RRJ et al.
International Journal of Surgical Pathology, 2019
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
Ravenscroft G et al.
Neurogastroenterology and Motility, 2018
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