A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69
Eva Lausberg, Sebastian Gießelmann, Joseph P. Dewulf, Elsa Wiame, Anja Holz, Ramona Salvarinova, Clara van Karnebeek, Patricia Klemm, Kim Ohl, Michael Mull, Till A. Braunschweig, Joachim Weis, Clemens J. Sommer, Stephanie Demuth, Claudia Haase, , Florian Kraft
The paper identifies mutations in the C2orf69 gene as the cause of a human multisystem disorder characterized by autoinflammation, leukoencephalopathy, and hepatopathy.
Journal of Clinical Investigation · May 4, 2021Peer-reviewedGenetic & Genomic Medicine