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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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Библиографические подробности
Опубликовано в: :Medicine (Baltimore)
Главные авторы: Mandiá, Natalia, Pérez-Muñuzuri, Alejandro, López-Suárez, Olalla, López-Sanguos, Carolina, Bautista-Casanovas, Adolfo, Couce, Mariá-Luz
Формат: Artigo
Язык:Inglês
Опубликовано: Wolters Kluwer Health 2018
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5999454/
https://ncbi.nlm.nih.gov/pubmed/29879038
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000010939
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