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 journal › Letter

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

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Apraxias
Microcephaly
Seizures
Mutation

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Taniguchi-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. / 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 = "M. Taniguchi-Ikeda and N. Morisada and H. 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 H. Kurahashi and K. Iijima",
year = "2018",
month = "4",
doi = "10.1111/cge.13106",
language = "English",
volume = "93",
pages = "931--933",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
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Taniguchi-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. / Taniguchi-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.

In: Clinical Genetics, Vol. 93, No. 4, 04.2018, p. 931-933.

Research output: Contribution to journal › Letter

TY - JOUR

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

AU - Taniguchi-Ikeda, M.

AU - Morisada, N.

AU - Inagaki, H.

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, H.

AU - Iijima, K.

PY - 2018/4

Y1 - 2018/4

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U2 - 10.1111/cge.13106

DO - 10.1111/cge.13106

M3 - Letter

C2 - 29243230

AN - SCOPUS:85041106288

VL - 93

SP - 931

EP - 933

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 4

ER -

Taniguchi-Ikeda M, Morisada N, Inagaki H, Ouchi Y, Takami Y, Tachikawa M et al. Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia. Clinical Genetics. 2018 Apr;93(4):931-933. https://doi.org/10.1111/cge.13106

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