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de novo interstitial deletions at the 11q23.3-q24.2 region
BACKGROUND: Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving 11q terminal deletion. Interstitial deletions at distal 11q are rare and their contributions to the clinical phenotype of JBS are unknown. CASE PRESENTATION: We presented the chromosome microarray (CMA) data and the...
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| Publicado no: | Mol Cytogenet |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4858824/ https://ncbi.nlm.nih.gov/pubmed/27158264 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0247-7 |
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