A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot

✍ Scribed by Nakamura, Kazuyuki; Nishiyama, Kiyomi; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Saitsu, Hirotomo; Jinnou, Hideo; Ohki, Shigeru; Yokochi, Kenji; Okanishi, Tohru; Enoki, Hideo

• Book ID: 122440701
• Publisher: Elsevier Science
• Year: 2014
• Tongue: English
• Weight: 70 KB
• Volume: 36
• Category: Article
• ISSN: 0387-7604
• DOI: 10.1016/j.braindev.2013.03.007