A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.-论文-万方医学网

作者： Cíntia Barros,Santos-Rebouças ^[1] ; Stefanie,Belet ^[2] ; Luciana,Guedes de Almeida ^[1] ; Márcia Gonçalves,Ribeiro ^[3] ; Enrique,Medina-Acosta ^[4] ; Paulo Roberto Valle,Bahia ^[5] ; Antônio Francisco,Alves da Silva ^[4] ; Flávia,Lima dos Santos ^[1] ; Glenda Corrêa,Borges de Lacerda ^[6] ; Márcia Mattos Gonçalves,Pimentel ^[1] ; Guy,Froyen ^[2]

作者单位： Department of Genetics, State University of Rio de Janeiro, Rio de Janeiro, Brazil. ^[1] 1] Human Genome Laboratory, VIB Center for the Biology of Disease, KU Leuven, Leuven, Belgium [2] Human Genome Laboratory, Center for Human, Genetics, KU Leuven, Leuven, Belgium. ^[2] Clinical Genetics Service, IPPMG, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. ^[3] Laboratory of Biotechnology, Center for Biosciences and Biotechnology, State University of North Fluminense Darcy Ribeiro, Rio de Janeiro, Brazil. ^[4] Department of Neurology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. ^[5] 1] Epilepsy Outpatient Section, Fluminense Federal University, Rio de Janeiro, Brazil [2] Neurology and Neurophysiology Service, State University of Rio de Janeiro, Rio de Janeiro, Brazil. ^[6]

主题词青少年(Adolescent);成年人(Adult);脑(Brain);儿童(Child);比较基因组杂交(Comparative Genomic Hybridization);细胞支架蛋白质类(Cytoskeletal Proteins);DNA突变分析(DNA Mutational Analysis);面容(Facies);女(雌)性(Female);GTP酶激活蛋白质类(GTPase-Activating Proteins);海马(Hippocampus);人类(Humans);磁共振成像(Magnetic Resonance Imaging);男(雄)性(Male);中年人(Middle Aged);核蛋白质类(Nuclear Proteins);系谱(Pedigree);表型(Phenotype);蛋白质相互作用域和基序(Protein Interaction Domains and Motifs);阅读框(Reading Frames);序列缺失(Sequence Deletion);X染色体失活(X Chromosome Inactivation);青年人(Young Adult)

DOI 10.1038/ejhg.2013.216

PMID 24105372

发布时间 2021-10-21

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A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.

European journal of human genetics

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European journal of human genetics

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A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.

European journal of human genetics

相似文献

European journal of human genetics

相关期刊

检索历史清除