Novel frameshift variants expand the map of the genetic defects in IRF2BP2

BACKGROUND: At present, the knowledge about disease-causing mutations in IRF2BP2 is very limited because only a few patients affected by this condition have been reported. As previous studies have described, the haploinsufficiency of this interferon transcriptional corepressors leads to the developm...

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Detalles Bibliográficos
Autores principales: García-Aznar, José María, Maneiro Pampín, Emilia, García Ramos, Maite, Acuña Pérez, María José, Paz Gandiaga, Nerea, Minguell Domingo, Laura, Calavia, Olga, Soler-Palacin, Pere, Colobran, Roger, Novoa Bolívar, Erika M., Ocejo Vinyals, Javier Gonzalo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10593445/
https://www.ncbi.nlm.nih.gov/pubmed/37876937
http://dx.doi.org/10.3389/fimmu.2023.1279171

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