Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.

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第一作者： Shinichi,Kameyama

第一单位： Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

作者： Shinichi,Kameyama ^[1] ; Takeshi,Mizuguchi ^[2] ; Hiromi,Fukuda ^[1] ; Lip Hen,Moey ^[1] ; Wee Teik,Keng ^[3] ; Nobuhiko,Okamoto ^[4] ; Naomi,Tsuchida ^[5] ; Yuri,Uchiyama ^[6] ; Eriko,Koshimizu ^[1] ; Kohei,Hamanaka ^[7] ; Atsushi,Fujita ^[1] ; Satoko,Miyatake ^[7] ; Naomichi,Matsumoto ^[1]

作者单位： Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. ^[1] Department of Pathology, Keio University School of Medicine, Tokyo, Japan. ^[2] Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan. ^[3] Department of Genetics, Penang General Hospital, George Town, Penang, Malaysia. ^[4] Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia. ^[5] Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan. ^[6] Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan. ^[7] Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan. ^[8] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. naomat@yokohama-cu.ac.jp. ^[9]

主题词儿童(Child);发育障碍(Developmental Disabilities);癫痫(Epilepsy);人类(Humans);表型(Phenotype);发作(Seizures)

DOI 10.1038/s10038-021-00978-y

PMID 34531528

发布时间 2022-06-10

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准确一般字义偏差语意偏离译文作用小提交