Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Abstract Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and genitourinary defects. Among the 40 protein-coding genes encompassed within the rearrangement, some have roles in leukocyte biology and i...

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Main Authors: Giuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, Chiara Auwerx, Sylvain Pradervand, Gilles Willemin, Kendra Hoekzema, Xander Nuttle, Jacqueline Chrast, Marie C. Sadler, Eleonora Porcu, 16p11.2 Consortium, Yann Herault, Bertrand Isidor, Brigitte Gilbert-Dussardier, Evan E. Eichler, Zoltan Kutalik, Alexandre Reymond
Format: Article
Language:English
Published: Nature Portfolio 2022-06-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-022-00308-x

Internet

https://doi.org/10.1038/s41525-022-00308-x

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