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TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction

Background: Pediatric Intestinal Pseudo-obstruction (PIPO) is a congenital enteric disorder characterized by severe gastrointestinal (GI) dysmotility, without mechanical obstruction. Although several genes have been described to cause this disease, most patients do not receive a genetic diagnosis. H...

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Detalles Bibliográficos
Autores principales: Zada, Almira, Kuil, Laura E., de Graaf, Bianca M., Kakiailatu, Naomi, Windster, Jonathan D., Brooks, Alice S., van Slegtenhorst, Marjon, de Koning, Barbara, Wijnen, René M. H., Melotte, Veerle, Hofstra, Robert M. W., Brosens, Erwin, Alves, Maria M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9304996/
https://www.ncbi.nlm.nih.gov/pubmed/35874825
http://dx.doi.org/10.3389/fcell.2022.901824