Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing-Reference-Cited by-同舟云学术

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Identification of a dominant MYH11 causal variant in chronic intestinal pseudo‐obstruction: Results of whole‐exome sequencing

Published:2019-08-13 Issue:5 Volume:96 Page:473-477
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Dong Weilai¹^ORCID,Baldwin Clinton²,Choi Jungmin¹³,Milunsky Jeff M.²,Zhang Junhui¹,Bilguvar Kaya¹,Lifton Richard P.³,Milunsky Aubrey²

Affiliation:

1. Department of GeneticsYale University School of Medicine New Haven Connecticut

2. Center for Human Genetics and Dept. Ob/GynTufts University School of Medicine Boston Massachusetts

3. Laboratory of Human Genetics and GenomicsRockefeller University New York New York

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13617

Reference20 articles.

1. Chronic Intestinal Pseudo-Obstruction

2. Chronic intestinal pseudo-obstruction

3. Epidemiology and Clinical Experience of Chronic Intestinal Pseudo-Obstruction in Japan: A Nationwide Epidemiologic Survey

4. Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene

5. ACTG2variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

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

3. Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome;Molecular Genetics and Genomics;2024-04-16

4. Evaluating the molecular and genetic mechanisms underlying gut motility disorders;Expert Review of Gastroenterology & Hepatology;2023-12-02

5. Before juvenile stroke can be attributed to MYH11 variants, alternative etiologies and pathophysiologies must be adequately ruled out;Journal of Stroke and Cerebrovascular Diseases;2023-11

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