211 Biallelic null mutations in PPM1D cause a novel combined immunodeficiency with severe neurodevelopmental defects

211 Biallelic null mutations in PPM1D cause a novel combined immunodeficiency with severe neurodevelopmental defects

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Bibliographic Details
Published in:Clinical immunology (Orlando, Fla.) Vol. 262; p. 110153
Main Authors: Sole, Ana Esteve, González-Granado, Luis Ignacio, Boast, Brigette, Niemela, Julie E., Stoddart, Jennifer L., Silva, Agustin G., Pias, Leticia, Bolasell, Merce, Marin, Ana V., Regueiro, Jose R, Alsina, Laia, Martine, Pierre, Brown, Kate, Apella, Ettore, Quesada, Juan Francisco, Sweeney, Colin L, Malech, Harry, Haigh, Cathryn L, Kueh, HyeSun, Rosenzweig, Sergio
Format: Journal Article
Language:English
Published: Elsevier Inc 01-05-2024
Subjects:
Cerebral organoids
Immunodeficiency
iPS cells
Murine model
Neurodevelopment
Neurodevelopment
Immunodeficiency
Cerebral organoids
iPS cells
Murine model
Online Access:Get full text
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Description
ISSN:1521-6616
1521-7035
DOI:10.1016/j.clim.2024.110153