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ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis

BACKGROUND/AIMS: Chronic intestinal pseudo-obstruction (CIPO) is a clinically heterogeneous syndrome characterized by compromised peristalsis and intestinal obstruction. Variants of actin gamma 2 (ACTG2), a protein crucial for correct enteric muscle contraction, have been found in CIPO patients. The...

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Detalles Bibliográficos
Autores principales: Hahn, Jong Woo, Moon, Soo Young, Kim, Min Soo, Woo, Min Hyung, Sohn, Min Ji, Kim, Hyun-Young, Seong, Moon-Woo, Park, Sung Sup, Park, Sung-Hye, Moon, Jin Soo, Ko, Jae Sung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Neurogastroenterology and Motility 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748860/
https://www.ncbi.nlm.nih.gov/pubmed/34980693
http://dx.doi.org/10.5056/jnm20243