Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Nature Genetics
Shen, Jun J; Gilmore, Edward C EC; Marshall, Christine A CA; Haddadin, Mary M; Reynolds, John J JJ; Eyaid, Wafaa W; Bodell, Adria A; Barry, Brenda B; Gleason, Danielle D; Allen, Kathryn K; Ganesh, Vijay S VS; Chang, Bernard S BS; Grix, Arthur A; Hill, R Sean RS; Topcu, Meral M; Caldecott, Keith W KW; Barkovich, A James AJ; Walsh, Christopher A CA