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

Mariko Ikeda, N. Morisada, Hidehito 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, Hiroki Kurahashi, K. Iijima

Research output: Contribution to journalLetter

Original languageEnglish
Pages (from-to)931-933
Number of pages3
JournalClinical Genetics
Volume93
Issue number4
DOIs
Publication statusPublished - 01-04-2018

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Apraxias
Microcephaly
Seizures
Mutation

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Ikeda, Mariko ; Morisada, N. ; Inagaki, Hidehito ; Ouchi, Y. ; Takami, Y. ; Tachikawa, M. ; Satake, W. ; Kobayashi, K. ; Tsuneishi, S. ; Takada, S. ; Yamaguchi, H. ; Nagase, H. ; Nozu, K. ; Okamoto, N. ; Nishio, H. ; Toda, T. ; Morioka, I. ; Wada, H. ; Kurahashi, Hiroki ; Iijima, K. / Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia. In: Clinical Genetics. 2018 ; Vol. 93, No. 4. pp. 931-933.
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title = "Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia",
author = "Mariko Ikeda and N. Morisada and Hidehito Inagaki and Y. Ouchi and Y. Takami and M. Tachikawa and W. Satake and K. Kobayashi and S. Tsuneishi and S. Takada and H. Yamaguchi and H. Nagase and K. Nozu and N. Okamoto and H. Nishio and T. Toda and I. Morioka and H. Wada and Hiroki Kurahashi and K. Iijima",
year = "2018",
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Ikeda, M, Morisada, N, Inagaki, H, Ouchi, Y, Takami, Y, Tachikawa, M, Satake, W, Kobayashi, K, Tsuneishi, S, Takada, S, Yamaguchi, H, Nagase, H, Nozu, K, Okamoto, N, Nishio, H, Toda, T, Morioka, I, Wada, H, Kurahashi, H & Iijima, K 2018, 'Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia', Clinical Genetics, vol. 93, no. 4, pp. 931-933. https://doi.org/10.1111/cge.13106

Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia. / Ikeda, Mariko; Morisada, N.; Inagaki, Hidehito; Ouchi, Y.; Takami, Y.; Tachikawa, M.; Satake, W.; Kobayashi, K.; Tsuneishi, S.; Takada, S.; Yamaguchi, H.; Nagase, H.; Nozu, K.; Okamoto, N.; Nishio, H.; Toda, T.; Morioka, I.; Wada, H.; Kurahashi, Hiroki; Iijima, K.

In: Clinical Genetics, Vol. 93, No. 4, 01.04.2018, p. 931-933.

Research output: Contribution to journalLetter

TY - JOUR

T1 - Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia

AU - Ikeda, Mariko

AU - Morisada, N.

AU - Inagaki, Hidehito

AU - Ouchi, Y.

AU - Takami, Y.

AU - Tachikawa, M.

AU - Satake, W.

AU - Kobayashi, K.

AU - Tsuneishi, S.

AU - Takada, S.

AU - Yamaguchi, H.

AU - Nagase, H.

AU - Nozu, K.

AU - Okamoto, N.

AU - Nishio, H.

AU - Toda, T.

AU - Morioka, I.

AU - Wada, H.

AU - Kurahashi, Hiroki

AU - Iijima, K.

PY - 2018/4/1

Y1 - 2018/4/1

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U2 - 10.1111/cge.13106

DO - 10.1111/cge.13106

M3 - Letter

VL - 93

SP - 931

EP - 933

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 4

ER -