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PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature
Developmental encephalopathies constitute a broad and genetically heterogeneous spectrum of disorders associated with global developmental delay, intellectual disability, frequent epilepsy, and other neurofunctional abnormalities. Here, we report a male presenting with infantile onset epilepsy and s...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5878136/ https://ncbi.nlm.nih.gov/pubmed/28464511 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38236 |
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