VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations

Copy number variations (CNVs), either DNA gains or losses, have been found at common regions throughout the human genome. Most CNVs neither have a pathogenic significance nor result in disease-related phenotypes but, instead, reflect the normal population variance. However, larger CNVs, which often...

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Main Authors: Brosens, E., Eussen, H., van Bever, Y., van der Helm, R.M., Ijsselstijn, H., Zaveri, H.P., Wijnen, R., Scott, D.A., Tibboel, D., de Klein, A.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2013
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Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3638775/
https://ncbi.nlm.nih.gov/pubmed/23653573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000345577
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