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A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers
BACKGROUND: X-linked severe combined immunodeficiency is caused by IL2RG gene mutation. Several variations have been identified in the IL2RG gene, which potentially can prevent the production of nonfunctional proteins. Herein, a novel X-linked variant in the IL2RG gene is reported in twin brothers,...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353185/ https://www.ncbi.nlm.nih.gov/pubmed/37461086 http://dx.doi.org/10.1186/s13256-023-04049-y |