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De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
Recent studies revealed the power of whole-exome sequencing to identify mutations in sporadic cases with non-syndromic intellectual disability. We now identified de novo missense variants in NAA10 in two unrelated individuals, a boy and a girl, with severe global developmental delay but without any...
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| 發表在: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2015
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4402627/ https://ncbi.nlm.nih.gov/pubmed/25099252 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.150 |
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