换一批A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.
第一作者：
Daniel L,Polla
第一单位：
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.;CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil.
作者：
医学主题词
衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);脑(Brain);儿童(Child);密码子, 无义(Codon, Nonsense);女(雌)性(Female);人类(Humans);磁共振成像(Magnetic Resonance Imaging);发作(Seizures);X染色体失活(X Chromosome Inactivation)
DOI
10.1002/mgg3.861
PMID
31414730
发布时间
2022-12-07
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Molecular genetics & genomic medicine
2019年7卷10期
e00861页
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