Articles with "mutations presenting" as a keyword



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Corneal Ulcers with NOD2 Mutations Presenting with Mixed Syndromic Phenotype.

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Published in 2021 at "Ocular immunology and inflammation"

DOI: 10.1080/09273948.2021.1993268

Abstract: 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… read more here.

Keywords: corneal ulcers; mutations presenting; ulcers nod2; presenting mixed ... See more keywords