Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity

PURPOSE: Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. We sought to determine the diagnostic contribution of CNVs using genome-wide chromosomal microarray analysis (CMA...

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Detalles Bibliográficos
Autores principales: Beers, Breanna J., Similuk, Morgan N., Ghosh, Rajarshi, Seifert, Bryce A., Jamal, Leila, Kamen, Michael, Setzer, Michael R., Jodarski, Colleen, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Cao, Wenjia, Bi, Weimin, Veltri, Daniel, Karlins, Eric, Zhang, Lingwen, Li, Zhiwen, Oler, Andrew J., Jevtich, Kathleen, Yu, Yunting, Hullfish, Haley, Bielekova, Bibiana, Frischmeyer-Guerrerio, Pamela, Dang Do, An, Huryn, Laryssa A., Olivier, Kenneth N., Su, Helen C., Lyons, Jonathan J., Zerbe, Christa S., Rao, V. Koneti, Keller, Michael D., Freeman, Alexandra F., Holland, Steven M., Franco, Luis M., Walkiewicz, Magdalena A., Yan, Jia
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/PMC10196392/
https://www.ncbi.nlm.nih.gov/pubmed/37215141
http://dx.doi.org/10.3389/fimmu.2023.1172004

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