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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Библиографические подробности
Опубликовано в: :Pediatr Neurol
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 2019
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Article
Online-ссылка: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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