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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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Detalles Bibliográficos
Autores principales: Gharesouran, Jalal, Khalili, Azizeh Farshbaf, Azari, Noushin Sorkhkoh, Vahedi, Leila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
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