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Tuberous Sclerosis Complex Genotypes and Developmental Phenotype
BACKGROUND: Children with tuberous sclerosis complex (TSC), caused by pathogenic variants in TSC1/TSC2, are at risk for intellectual disability. TSC2 pathogenic variants appear to increase the risk, compared with TSC1. However, the effect of TSC2 pathogenic variants on early and specific domains of...
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| 出版年: | Pediatr Neurol |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6837240/ https://ncbi.nlm.nih.gov/pubmed/31005478 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2019.03.003 |
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