De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

BACKGROUND: Genomic disorders resulting from deletion or duplication of genomic segments are known to be an important cause of cardiovascular malformations (CVMs). In our previous study, we identified a unique individual with a de novo 17q25.3 deletion from a study of 714 individuals with CVM. METHO...

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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Probst, F. J., James, R. A., Burrage, L. C., Rosenfeld, J. A., Bohan, T. P., Melver, C. H. Ward, Magoulas, P., Austin, E., Franklin, A. I. A., Azamian, M., Xia, F., Patel, A., Bi, W., Bacino, C., Belmont, J.W., Ware, S. M., Shaw, C., Cheung, S.W., Lalani, S. R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2015
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4472615/
https://ncbi.nlm.nih.gov/pubmed/26070612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0291-0
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