Article

Phenotype and genotype characteristics of neonatal onset inflammatory bowel disease with combined immunodeficiency of TTC7A deficiency in mainland China

2021-04-05

Abstract excerpt

<title>Abstract</title> <p>Objective: To explore the characteristics of genotype and phenotype of neonatal onset inflammatory bowel disease with combined immunodeficiency caused by a novel TTC7A mutant. <h4>Methods:</h4> We summarized the clinical manifestations, imagings, endoscopic and histological findings, biochemical analyses,whole exon sequencing(WES), in silico and intervention of the patient. <h4>Results:...

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Literature Corpus work: 9c6d2026-992b-5994-b7d5-639bf157aff2
DOI: 10.21203/rs.3.rs-386328/v1

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