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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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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | 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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