Novel presentation of Omenn syndrome in association with aniridia.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 19178939.
- Also identified by DOI 10.1016/j.jaci.2008.12.007 and PMC identifier 2688768.
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Abstract
We report a case of Omenn Syndrome presenting in association with aniridia arising from 3 maternally-inherited RAG mutations compounded by a deletion encompassing <i>RAG</i> and <i>PAX6</i> genes on the paternally-inherited chromosome.
Medical subject headings
- Aniridia
- DNA-Binding Proteins
- Homeodomain Proteins
- Mutation, Missense
- Nuclear Proteins
- Severe Combined Immunodeficiency