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Genotype and cognitive phenotype of patients with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder, which affects 1 in 6000 people. About half of these patients are affected by mental retardation, which has been associated with TSC2 mutations, epilepsy severity and tuber burden. The bimodal intelligence distribution i...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3330219/ https://ncbi.nlm.nih.gov/pubmed/22189265 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.241 |
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