Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia

M. Taniguchi-Ikeda, N. Morisada, H. Inagaki, Y. Ouchi, Y. Takami, M. Tachikawa, W. Satake, K. Kobayashi, S. Tsuneishi, S. Takada, H. Yamaguchi, H. Nagase, K. Nozu, N. Okamoto, H. Nishio, T. Toda, I. Morioka, H. Wada, H. Kurahashi, K. Iijima

Research output: Contribution to journalLetterpeer-review

4 Citations (Scopus)
Original languageEnglish
Pages (from-to)931-933
Number of pages3
JournalClinical Genetics
Volume93
Issue number4
DOIs
Publication statusPublished - 04-2018
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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