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First case report of Rett syndrome in the Azeri Turkish population and brief review of the literature
Rett syndrome is a dominant X-linked male-lethal disorder largely caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Clinical manifestations include neurodevelopmental disorder characterized by early-onset intractable seizures, severe developmental delay, intellectual dis...
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| Publicado no: | Epilepsy Behav Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4338853/ https://ncbi.nlm.nih.gov/pubmed/25737965 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebcr.2014.11.001 |
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