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Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
The genetic etiology of non-aneuploid fetal structural abnormalities is typically investigated by karyotyping and array-based detection of microscopically detectable rearrangements, and submicroscopic copy-number variants (CNVs), which collectively yield a pathogenic finding in up to 10% of cases. W...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4030780/ https://www.ncbi.nlm.nih.gov/pubmed/24476948 http://dx.doi.org/10.1093/hmg/ddu038 |