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Article

Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.

Clinical and translational gastroenterology - 1 Feb 2020

Ashton James J, Mossotto Enrico, Stafford Imogen S, Haggarty Rachel, Coelho Tracy A F, Batra Akshay, Afzal Nadeem A, Mort Matthew, Bunyan David, Beattie Robert Mark, Ennis Sarah

Abstract excerpt

OBJECTIVES: Monogenic inflammatory bowel disease (IBD) comprises rare Mendelian causes of gut inflammation, often presenting in infants with severe and atypical disease. This study aimed to identify clinically relevant variants within 68 monogenic IBD genes in an unselected pediatric IBD cohort. METHODS: Whole exome sequencing was performed on patients with pediatric-onset disease. Variants fulfilling the...

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Identifiers

PMID: 32463623
DOI: 10.14309/ctg.0000000000000129
PMCID: PMC7145023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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