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Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?
Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Baishideng Publishing Group Inc
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5746628/ https://www.ncbi.nlm.nih.gov/pubmed/29317992 http://dx.doi.org/10.4330/wjc.v9.i12.848 |