Associated Papers
Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study.
Hilberath J et al.
Orphanet Journal of Rare Diseases, 2025
Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.
Devavarapu PKV et al.
Clinical Journal of Gastroenterology, 2024
Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.
Geraghty RM et al.
Journal of Rare Diseases (berlin, Germany), 2023
Variant in ACTG2 Causing Megacystis Microcolon Hypoperistalsis Syndrome and Severe Familial Postpartum Bleeding.
Krabek R et al.
Fetal Diagnosis and Therapy, 2022
Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.
Hashmi SK et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2021
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
Matera I et al.
Clinical Genetics, 2021
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
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Assia Batzir N et al.
Human Mutation, 2020
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
Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.
Milunsky A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D et al.
Human Molecular Genetics, 2016
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Wangler MF et al.
Plos Genetics, 2014
Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.
Kapur RP et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0