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

Research output: Contribution to journal › Letter › peer-review

4 Citations (Scopus)

Original language	English
Pages (from-to)	931-933
Number of pages	3
Journal	Clinical Genetics
Volume	93
Issue number	4
DOIs	https://doi.org/10.1111/cge.13106
Publication status	Published - 04-2018

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

Access to Document

10.1111/cge.13106

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. (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

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.

@article{b1fd72d2d5204b1dad9672ce202a4bba,

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",

note = "Funding Information: We thank the patients and their families for participating in this study. We thank Dr K. Kosaki, T. Ogata, and M. Fukami for valuable comments. This work was supported by a donation from Kobe City.",

year = "2018",

month = apr,

doi = "10.1111/cge.13106",

language = "English",

volume = "93",

pages = "931--933",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell",

number = "4",

}

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 › peer-review

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.

N1 - Funding Information: We thank the patients and their families for participating in this study. We thank Dr K. Kosaki, T. Ogata, and M. Fukami for valuable comments. This work was supported by a donation from Kobe City.

PY - 2018/4

Y1 - 2018/4

UR - http://www.scopus.com/inward/record.url?scp=85041106288&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85041106288&partnerID=8YFLogxK

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 -