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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338853/ https://www.ncbi.nlm.nih.gov/pubmed/25737965 http://dx.doi.org/10.1016/j.ebcr.2014.11.001 |