Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.

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作者： Jun-ichi,Takanashi ^[1] ; Hitoshi,Osaka ^[2] ; Hirotomo,Saitsu ^[3] ; Masayuki,Sasaki ^[4] ; Harushi,Mori ^[5] ; Hidehiro,Shibayama ^[6] ; Manabu,Tanaka ^[7] ; Yoshiko,Nomura ^[8] ; Yasuo,Terao ^[9] ; Ken,Inoue ^[10] ; Naomichi,Matsumoto ^[3] ; A James,Barkovich ^[11]

作者单位： Department of Pediatrics, Kameda Medical Center, Kamogawa, Japan; Department of Radiology, Toho University Sakura Medical Center, Sakura, Japan. Electronic address: jtaka44@hotmail.co.jp. ^[1] Division of Neurology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan. ^[2] Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan. ^[3] Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Japan. ^[4] Department of Radiology, The University of Tokyo, Tokyo, Japan. ^[5] Department of Neurology, Kameda Medical Center, Kamogawa, Japan. ^[6] Division of Neurology, Saitama Children's Medical Center, Saitama, Japan. ^[7] Segawa Neurological Clinic for Children, Tokyo, Japan. ^[8] Department of Neurology, The University of Tokyo, Tokyo, Japan. ^[9] Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry, Kodaira, Japan. ^[10] Department of Radiology and Biomedical Imaging, University of California San Francisco, CA, USA. ^[11]

关键词 Cerebellum Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC)Hypomyelination Hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome)MRI POLR3A POLR3B RNA polymerase III (Pol III)