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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6212609/ https://www.ncbi.nlm.nih.gov/pubmed/30397616 http://dx.doi.org/10.12998/wjcc.v6.i12.570 |