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50例微缺失和微重复综合征患儿的临床表型及基因组拷贝数变异的分析
OBJECTIVE: To investigate the association between genotype and phenotype of microdeletion and microduplication syndromes (MMSs) and the pathogenesis of pathogenic copy number variations (CNVs). METHODS: A total of 50 children with MMSs diagnosed by chromosomal microarray analysis (CMA) from June 201...
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| Vydáno v: | Zhongguo Dang Dai Er Ke Za Zhi |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
中国当代儿科杂志编辑部
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389961/ https://ncbi.nlm.nih.gov/pubmed/27655541 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2016.09.011 |
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