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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Detalhes bibliográficos
Publicado no:Pediatr Neurol
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha: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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