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Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
- Shen, Jun;
- Gilmore, Edward C;
- Marshall, Christine A;
- Haddadin, Mary;
- Reynolds, John J;
- Eyaid, Wafaa;
- Bodell, Adria;
- Barry, Brenda;
- Gleason, Danielle;
- Allen, Kathryn;
- Ganesh, Vijay S;
- Chang, Bernard S;
- Grix, Arthur;
- Hill, R Sean;
- Topcu, Meral;
- Caldecott, Keith W;
- Barkovich, A James;
- Walsh, Christopher A
Published Web Location
https://doi.org/10.1038/ng.526Abstract
Christopher Walsh and colleagues describe a new recessive genetic disease characterized by microcephaly, early-onset intractable seizures and developmental delay (MCSZ). The authors identify mutations in PNKP that result in this severe disease and show that PNKP mutations disrupt DNA repair.
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