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

doi:10.1111/cge.13106

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

研究成果: ジャーナルへの寄稿 › Letter › 査読

本文言語	英語
ページ（範囲）	931-933
ページ数	3
ジャーナル	Clinical Genetics
巻	93
号	4
DOI	https://doi.org/10.1111/cge.13106
出版ステータス	出版済み - 04-2018
外部発表	はい

All Science Journal Classification (ASJC) codes

遺伝学
遺伝学（臨床）

文献へのアクセス

10.1111/cge.13106

他のファイルとリンク

引用スタイル

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, 93(4), 931-933. https://doi.org/10.1111/cge.13106

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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 = apr,

doi = "10.1111/cge.13106",

language = "English",

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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

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

UR - https://www.scopus.com/pages/publications/85041106288

UR - https://www.scopus.com/pages/publications/85041106288#tab=citedBy

U2 - 10.1111/cge.13106

DO - 10.1111/cge.13106

M3 - Letter

C2 - 29243230

AN - SCOPUS:85041106288

SN - 0009-9163

VL - 93

SP - 931

EP - 933

JO - Clinical Genetics

JF - Clinical Genetics

IS - 4

ER -