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Article

Corneal Ulcers with NOD2 Mutations Presenting with Mixed Syndromic Phenotype.

Ocular immunology and inflammation - 1 Jan 2023

Schofield Travis Scott, Sup Lee Chang, Peppers Brian Patrick, Mauger Thomas

Abstract excerpt

PURPOSE: To report a case of corneal ulcers in a patient with NOD2 mutations unique to but phenotypically resembling well-characterized syndromic phenotypes like Blau syndrome. OBSERVATION: A 25-year-old female with a medical history of type I diabetes mellitus, Asperger syndrome, and neuropathy presented with bilateral corneal ulcers. Her visual acuity was 20/200 OU. Macular edema was identified OS, and...

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Identifiers

PMID: 34802386
DOI: 10.1080/09273948.2021.1993268

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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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