Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
第一作者:
Ilse,Feenstra
第一单位:
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
作者:
医学主题词
畸形, 多发性(Abnormalities, Multiple);染色体畸变(Chromosome Aberrations);染色体断裂点(Chromosome Breakpoints);比较基因组杂交(Comparative Genomic Hybridization);DNA拷贝数变异(DNA Copy Number Variations);发育障碍(Developmental Disabilities);女(雌)性(Female);基因组, 人(Genome, Human);人类(Humans);男(雄)性(Male);表型(Phenotype)
DOI
10.1038/ejhg.2011.120
PMID
21712853
发布时间
2021-10-20
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