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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Bibliografiske detaljer
Udgivet i:	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
Format:	Artigo
Sprog:	Inglês
Udgivet:	2019
Fag:	Article
Online adgang:	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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Tuberous Sclerosis Complex Genotypes and Developmental Phenotype

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