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DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report
BACKGROUND: Ligase IV (LIG4) dificiency is a very rare clinical syndrome with around 50 cases reported to date. This syndrome is caused by biallelic pathogenic variants in the LIG4 gene, which cause DNA damage repair disorders, mainly manifesting as severe immunodeficiency. CASE PRESENTATION: We rep...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552496/ https://www.ncbi.nlm.nih.gov/pubmed/36221079 http://dx.doi.org/10.1186/s12887-022-03655-x |