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Molecular characterization of a novel ring 6 chromosome using next generation sequencing
BACKGROUND: Karyotyping is the gold standard cytogenetic method for detection of ring chromosomes. In this study we report the molecular characterization of a novel ring 6 (r6) chromosome in a six-year-old girl with severe mental retardation, congenital heart disease and craniofacial abnormalities....
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| Publicat a: | Mol Cytogenet |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4839136/ https://ncbi.nlm.nih.gov/pubmed/27103944 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0245-9 |
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