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Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome
Jacobsen syndrome is a rare genetic disorder associated with a terminal deletion in chromosome 11. The clinical presentation is variable. Although immunodeficiency has been described in patients with Jacobsen syndrome, a clear genotype-phenotype correlation has not yet been established. Here, we rep...
Autores principales: | Trachsel, Tina, Prader, Seraina, Steindl, Katharina, Pachlopnik Schmid, Jana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9634179/ https://www.ncbi.nlm.nih.gov/pubmed/36341443 http://dx.doi.org/10.3389/fimmu.2022.867206 |
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