Associated Papers
A rare autoinflammatory syndrome associated with a C2orf69 frameshift mutation: a case report.
Türkmen Ş et al.
Immunologic Research, 2025
Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.
Oh RY et al.
Journal of Medical Genetics, 2025
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Lausberg E et al.
The Journal of Clinical Investigation, 2021
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