Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent. Genetic defects resulting in activation of type 1 int...

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Detalhes bibliográficos
Publicado no:J Exp Med
Main Authors: Meuwissen, Marije E.C., Schot, Rachel, Buta, Sofija, Oudesluijs, Grétel, Tinschert, Sigrid, Speer, Scott D., Li, Zhi, van Unen, Leontine, Heijsman, Daphne, Goldmann, Tobias, Lequin, Maarten H., Kros, Johan M., Stam, Wendy, Hermann, Mark, Willemsen, Rob, Brouwer, Rutger W.W., Van IJcken, Wilfred F.J., Martin-Fernandez, Marta, de Coo, Irenaeus, Dudink, Jeroen, de Vries, Femke A.T., Bertoli Avella, Aida, Prinz, Marco, Crow, Yanick J., Verheijen, Frans W., Pellegrini, Sandra, Bogunovic, Dusan, Mancini, Grazia M.S.
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 2016
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4925017/
https://ncbi.nlm.nih.gov/pubmed/27325888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20151529
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