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A Novel RAG1 Mutation in a Compound Heterozygous Status in a Child With Omenn Syndrome
Omenn syndrome is a rare autosomal recessive disorder characterized by severe, combined immunodeficiency and autoimmune features. In this case study, we found Omenn syndrome in a 3-month-old boy with recurrent infection, erythroderma, axillary lymphadenopathy, and hepatosplenomegaly. The numbers of...
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| Yayımlandı: | Front Genet |
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| Asıl Yazarlar: | , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Frontiers Media S.A.
2019
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6783574/ https://ncbi.nlm.nih.gov/pubmed/31632441 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00913 |
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