Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant-Reference-Cited by-同舟云学术

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Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant

Published:2017-11-28 Issue:12 Volume:37 Page:1254-1256
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenatal Diagnosis

Author:

Milunsky Aubrey¹²^ORCID,Lazier Joanna³^ORCID,Baldwin Clinton¹,Young Carmen⁴,Primack Daniel¹,Milunsky Jeff M.¹²

Affiliation:

1. Center for Human Genetics; Cambridge MA USA

2. Department of Obstetrics and Gynecology; Tufts University School of Medicine; Boston MA USA

3. Department of Medical Genetics; University of Alberta; Edmonton AB Canada

4. Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Royal Alexandra Hospital; University of Alberta; Edmonton AB Canada

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.5171/fullpdf

Reference13 articles.

1. Segregation of a missense variant in enteric smooth muscle actin gamma-2 with autosomal dominant familial visceral myopathy;Lehtonen;Gastroenterology,2012

2. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome;Wangler;PLoS Genet,2014

3. Megacystis microcolon-intestinal-hypoperistalsis syndrome: systematic review of outcome;Gosemann;Pediatr Surg Int,2011

4. A national survey of patients with intestinal motility disorder who are potential candidates for intestinal transplantation in Japan;Ueno;Transplant Proc,2013

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy;Science Advances;2024-05-31

2. Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (<i>ACTG2</i>, <i>MYH11</i>, <i>FLNA</i>, <i>MYLK</i>, <i>RAD21</i>, <i>MYL9</i> and <i>LMOD1</i>);Intractable & Rare Diseases Research;2022-08-31

3. ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis;Journal of Neurogastroenterology and Motility;2022-01-30

4. Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton;American Journal of Physiology-Gastrointestinal and Liver Physiology;2021-06-01

5. Genetic Counseling: Preconception, Prenatal, and Perinatal;Genetic Disorders and the Fetus;2021-04-20

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