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CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature
The mutation in CNKSR2 leads to a broad spectrum of phenotypic variability and manifests as an X-linked intellectual disability. However, we reported that the male patient in this study not only had intellectual disability but also epileptic seizures. In addition, there were progressive language imp...
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| 出版年: | World J Clin Cases |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Baishideng Publishing Group Inc
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6212609/ https://ncbi.nlm.nih.gov/pubmed/30397616 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12998/wjcc.v6.i12.570 |
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