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Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers

Pediatric intestinal pseudo-obstruction (PIPO) is a heterogeneous condition characterized by impaired gastrointestinal propulsion, a broad clinical spectrum, and variable severity. Several molecular bases underlying primary PIPO have been identified, of which autosomal dominant ACTG2-related viscera...

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Detalles Bibliográficos
Autores principales: Mori, Mari, Clause, Amanda R., Truxal, Kristen, Hagelstrom, R. Tanner, Manickam, Kandamurugu, Kaler, Stephen G., Prasad, Vinay, Windster, Jonathan, Alves, Maria M., Di Lorenzo, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10158422/
https://www.ncbi.nlm.nih.gov/pubmed/37168481
http://dx.doi.org/10.1097/PG9.0000000000000258