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Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes
Rare copy number variations (CNVs) are a recognized cause of common human disease. Predicting the genetic element(s) within a small CNV whose copy number loss or gain underlies a specific phenotype might be achieved reasonably rapidly for single patients. Identifying the biological processes that ar...
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| Główni autorzy: | , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Oxford University Press
2011
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3033180/ https://ncbi.nlm.nih.gov/pubmed/21147756 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq527 |
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