A novel <i>PAK3</i> pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

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作者： Aritoshi,Iida ^[1] ; Kyoko,Takano ^[2] ; Eri,Takeshita ^[3] ; Chihiro,Abe-Hatano ^[4] ; Shinichi,Hirabayashi ^[5] ; Yuji,Inaba ^[5] ; Shunichi,Kosugi ^[6] ; Yoichiro,Kamatani ^[6] ; Yukihide,Momozawa ^[7] ; Michiaki,Kubo ^[8] ; Eiji,Nakagawa ^[9] ; Ken,Inoue ^[3] ; Yu-Ichi,Goto ^[4]

作者单位： Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo 187-8551, Japan. ^[1] Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Nagano 390-8621, Japan. ^[2] Department of Child Neurology, National Center Hospital, NCNP, Kodaira, Tokyo 187-8551, Japan. ^[3] Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo 187-8551, Japan. ^[4] Division of Child Neurology, Nagano Children's Hospital, Azumino, Nagano 399-8288, Japan. ^[5] Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan. ^[6] Laboratory of Complex Trait Genomics Department of Computational Biology and Medical Sciences Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 108-8639, Japan. ^[7] Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan. ^[8] RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan. ^[9] Department of Bioresource, Medical Genome Center, NCNP, Kodaira, Tokyo 187-8551, Japan. ^[10]

关键词 intellectual disability severe

主题词儿童(Child);发育障碍(Developmental Disabilities);基因, X连锁(Genes, X-Linked);遗传关联研究(Genetic Association Studies);人类(Humans);婴儿(Infant);日本(Japan);男(雄)性(Male);精神发育迟滞, X连锁(Mental Retardation, X-Linked);小头畸形(Microcephaly);突变(Mutation);突变, 误义(Mutation, Missense);系谱(Pedigree);表型(Phenotype);同胞(Siblings);p21活化激酶类(p21-Activated Kinases)

DOI 10.1101/mcs.a003988

PMID 31444167

发布时间 2022-12-07

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Cold Spring Harbor molecular case studies

2019年5卷6期

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A novel <i>PAK3</i> pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

Cold Spring Harbor molecular case studies

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Cold Spring Harbor molecular case studies

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A novel <i>PAK3</i> pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

Cold Spring Harbor molecular case studies

相似文献

Cold Spring Harbor molecular case studies

相关期刊

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