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Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature

INTRODUCTION: Hereditary multiple intestinal atresia associated with severe combined immunodeficiency (MIA-SCID) is a very rare disease caused by deleterious mutations in the tetratricopeptide repeat domain-containing protein 7A gene TTC7A. It is characterized by intestinal obstruction, sepsis, and...

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Detalles Bibliográficos
Autores principales: Mandiá, Natalia, Pérez-Muñuzuri, Alejandro, López-Suárez, Olalla, López-Sanguos, Carolina, Bautista-Casanovas, Adolfo, Couce, Mariá-Luz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999454/
https://www.ncbi.nlm.nih.gov/pubmed/29879038
http://dx.doi.org/10.1097/MD.0000000000010939