Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia

Kurihara, Masanori; Ishiura, Hiroyuki; Sasaki, Takuya; Otsuka, Juuri; Hayashi, Toshihiro; Terao, Yasuo; Matsukawa, Takashi; Mitsui, Jun; Kaneko, Juntaro; Nishiyama, Kazutoshi; Doi, Koichiro; Yoshimura, Jun; Morishita, Shinichi; Shimizu, Jun; Tsuji, Shoji

期刊名称The Cerebellum
作者Kurihara, Masanori; Ishiura, Hiroyuki; Sasaki, Takuya; Otsuka, Juuri; Hayashi, Toshihiro; Terao, Yasuo; Matsukawa, Takashi; Mitsui, Jun; Kaneko, Juntaro; Nishiyama, Kazutoshi; Doi, Koichiro; Yoshimura, Jun; Morishita, Shinichi; Shimizu, Jun; Tsuji, Shoji
印刷ISSN1473-4222
电子ISSN1473-4230
文件大小2956.85KB
发表时间2017-9-11
DOI10.1007/s12311-017-0883-4

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Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia