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Article

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2011

Worthey Elizabeth A, Mayer Alan N, Syverson Grant D, Helbling Daniel, Bonacci Benedetta B, Decker Brennan, Serpe Jaime M, Dasu Trivikram, Tschannen Michael R, Veith Regan L, Basehore Monica J, Broeckel Ulrich, Tomita-Mitchell Aoy, Arca Marjorie J, Casper James T, Margolis David A, Bick David P, Hessner Martin J, Routes John M, Verbsky James W, Jacob Howard J, Dimmock David P

Abstract excerpt

PURPOSE: We report a male child who presented at 15 months with perianal abscesses and proctitis, progressing to transmural pancolitis with colocutaneous fistulae, consistent with a Crohn disease-like illness. The age and severity of the presentation suggested an underlying immune defect; however...

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Source

Identifiers

PMID: 21173700
DOI: 10.1097/GIM.0b013e3182088158

Genes

NOD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21173700-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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