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Whole genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Clinical laboratory diagnostic evaluation of the genomes of children with suspected genetic disorders, including chromosomal microarray and exome sequencing, cannot detect copy number neutral genomic rearrangements such as inversions, balanced translocations and complex chromosomal rearrangements (C...
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| 出版年: | Am J Med Genet A |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7502196/ https://ncbi.nlm.nih.gov/pubmed/32125084 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61539 |
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