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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...
Spremljeno u:
| Izdano u: | World J Clin Cases |
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| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Baishideng Publishing Group Inc
2018
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| Teme: | |
| Online pristup: | 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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