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...

詳細記述

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書誌詳細
出版年:Pediatr Neurol
主要な著者: Farach, Laura S., Pearson, Deborah A., Woodhouse, John P., Schraw, Jeremy M., Sahin, Mustafa, Krueger, Darcy A., Wu, Joyce Y., Bebin, Elizabeth M., Lupo, Philip J., Au, Kit Sing, Northrup, Hope
フォーマット: Artigo
言語:Inglês
出版事項: 2019
主題:
Article
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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