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A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome
The 22q11.2 deletion syndrome (22q11DS), the most common survivable human genetic deletion disorder, is caused by a hemizygous deletion of 30–40 contiguous genes on chromosome 22, many of which have not been well characterized. Clinical features seen in patients with this deletion, including intelle...
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| Yayımlandı: | Eur J Med Genet |
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| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2017
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6991138/ https://ncbi.nlm.nih.gov/pubmed/29191496 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2017.11.016 |
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