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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...

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Detalles Bibliográficos
Autores principales: Trachsel, Tina, Prader, Seraina, Steindl, Katharina, Pachlopnik Schmid, Jana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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