Articles with "actg2" as a keyword



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Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients

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Published in 2020 at "Journal of Pediatric Gastroenterology and Nutrition"

DOI: 10.1097/mpg.0000000000002897

Abstract: Supplemental Digital Content is available in the text ABSTRACT Objectives: Pediatric intestinal pseudo-obstruction (PIPO) is a severe gastrointestinal disorder occurring in children, leading to failure to thrive, malnutrition, and long-term parenteral nutrition dependence. Enteric smooth… read more here.

Keywords: pseudo obstruction; pediatric intestinal; enteric smooth; smooth muscle ... See more keywords
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The Diverse Phenotype of Intestinal Dysmotility Secondary to ACTG2-related Disorders

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Published in 2022 at "Journal of Pediatric Gastroenterology and Nutrition"

DOI: 10.1097/mpg.0000000000003400

Abstract: ABSTRACT Background and Aims: The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to… read more here.

Keywords: intestinal dysmotility; actg2 related; actg2; related disorders ... See more keywords