Novel Presentation of Omenn Syndrome in Association with Aniridia

We report a case of Omenn Syndrome presenting in association with aniridia arising from 3 maternally-inherited RAG mutations compounded by a deletion encompassing RAG and PAX6 genes on the paternally-inherited chromosome.

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Hlavní autoři: Sheehan, William J., Delmonte, Ottavia M., Miller, David T., Roberts, Amy E., Bonilla, Francisco A., Morra, Massimo, Giliani, Silvia, Pai, Sung-Yun, Notarangelo, Luigi D., Oettgen, Hans C.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2009
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2688768/
https://ncbi.nlm.nih.gov/pubmed/19178939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2008.12.007
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