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

作者信息

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

机构信息

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.

出版信息

Brain Dev. 2014 Mar;36(3):272-3. doi: 10.1016/j.braindev.2013.03.007. Epub 2013 Apr 25.

DOI:10.1016/j.braindev.2013.03.007
PMID:23623288
Abstract
摘要

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