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Genotype and cognitive phenotype of patients with tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder, which affects 1 in 6000 people. About half of these patients are affected by mental retardation, which has been associated with TSC2 mutations, epilepsy severity and tuber burden. The bimodal intelligence distribution i...

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Autori principali: van Eeghen, Agnies M, Black, Margaux E, Pulsifer, Margaret B, Kwiatkowski, David J, Thiele, Elizabeth A
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3330219/
https://ncbi.nlm.nih.gov/pubmed/22189265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.241
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