Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.
Mariko Taniguchi-IkedaN MorisadaH InagakiY OuchiY TakamiM TachikawaW SatakeK KobayashiS TsuneishiS TakadaH YamaguchiH NagaseK NozuN OkamotoH NishioT TodaI MoriokaH WadaH KurahashiK IijimaPublished in: Clinical genetics (2017)