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Article

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.

Genomics - 1 Jan 2000

Dinwiddie Darrell L, Bracken Julia M, Bass Julie A, Christenson Kathy, Soden Sarah E, Saunders Carol J, Miller Neil A, Singh Vivekanand, Zwick David L, Roberts Charles C, Dalal Jignesh, Kingsmore Stephen F

Abstract excerpt

Pediatric-onset inflammatory bowel disease (IBD) is known to be associated with severe disease, poor response to therapy, and increased morbidity and mortality. We conducted exome sequencing of two brothers from a non-consanguineous relationship who presented before the age of one with severe infantile-onset IBD, failure to thrive, skin rash, and perirectal abscesses refractory to medical management. We examined...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24001973
DOI: 10.1016/j.ygeno.2013.08.008
PMCID: PMC8142851

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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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