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Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multiple symptoms including neuropsychological deficits such as seizures, intellectual disability, and autism. TSC is inherited in an autosomal dominant pattern and is caused by mutations in either the TSC1 or TSC2 genes,...
Autores principales: | Hwang, Su-Kyeong, Lee, Jae-Hyung, Yang, Jung-eun, Lim, Chae-Seok, Lee, Jin-A, Lee, Yong-Seok, Lee, Kyungmin, Kaang, Bong-Kiun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878062/ https://www.ncbi.nlm.nih.gov/pubmed/27216612 http://dx.doi.org/10.1186/s13041-016-0222-6 |
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