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

Clin Genet. 2018 Apr;93(4):931-933. doi: 10.1111/cge.13106. Epub 2017 Dec 15.

M Taniguchi-Ikeda^{1

2}, N Morisada³, H Inagaki⁴, Y Ouchi⁴, Y Takami⁵, M Tachikawa⁶, W Satake⁶, K Kobayashi⁶, S Tsuneishi⁷, S Takada⁸, H Yamaguchi⁹, H Nagase¹, K Nozu¹, N Okamoto¹⁰, H Nishio¹¹, T Toda^{2

6}, I Morioka¹, H Wada¹², H Kurahashi⁴, K Iijima¹

¹ Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
² Division of Genetic Counseling, Kobe University Hospital, Kobe, Japan.
³ Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital Perinatal Center, Kobe, Japan.
⁴ Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
⁵ Department of Pediatrics, Himeji Red Cross Hospital, Himeji, Japan.
⁶ Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan.
⁷ Medical and Welfare Center Kizuna, Kasai, Japan.
⁸ Kobe University Graduate School of Health Sciences, Kobe, Japan.
⁹ Department of Neonatology, Hyogo Prefectural Kobe Children's Hospital Perinatal Center, Kobe, Japan.
¹⁰ Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
¹¹ Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.
¹² Medical and Welfare Center Sakura, Sanda, Japan.

No abstract available

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