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Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy
Journal article   Peer reviewed

Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy

Sébastien Viel, Elodie Cheyssac, Rémi Pescarmona, Laurie Besson, Marianne Till, Loïc Viremouneix, Isabelle Touitou, Guillaume Sarrabay, Thierry Walzer and Alexandre Belot
Annals of the Rheumatic Diseases, Vol.77(11), pp.1696-1698
11/2018
PMID: 29678940

Abstract

Mutations in the TNFAIP3 gene resulting in A20 haploinsufficiency (HA20) have been identified as a new cause of autoinflammation linked to uncontrolled nuclear factor kappa B (NF-κB) activation. [...]
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