Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia. Issue 4 (15th December 2017)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Clinical genetics. Volume 93:Issue 4(2018)
• Page Start: 931
• Page End: 933
• Publication Date: 2017-12-15
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13106
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract :