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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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| Autores principales: | , , , , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2009
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| Materias: | |
| Acceso en línea: | 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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