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Article

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

Medicine - 1 Jun 2018

Mandiá Natalia, Pérez-Muñuzuri Alejandro, López-Suárez Olalla, López-Sanguos Carolina, Bautista-Casanovas Adolfo, Couce Mariá-Luz

Abstract excerpt

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 a poor prognosis. Insights into phenotype-genotype correlations could help to guide genetic counseling and increase...

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Source

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Identifiers

PMID: 29879038
DOI: 10.1097/MD.0000000000010939
PMCID: PMC5999454

Genes

MIA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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