Genotype and brain pathology phenotype in children with tuberous sclerosis complex

Structural brain malformations associated with Tuberous Sclerosis Complex (TSC) are related to the severity of the clinical symptoms and can be visualized by magnetic resonance imaging (MRI). Tuberous Sclerosis Complex is caused by inactivating TSC1 or TSC2 mutations. We investigated associations be...

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Publicat a:Eur J Hum Genet
Autors principals: Overwater, Iris E, Swenker, Rob, van der Ende, Emma L, Hanemaayer, Kimberley BM, Hoogeveen-Westerveld, Marianne, van Eeghen, Agnies M, Lequin, Maarten H, van den Ouweland, Ans MW, Moll, Henriëtte A, Nellist, Mark, de Wit, Marie-Claire Y
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117934/
https://ncbi.nlm.nih.gov/pubmed/27406250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.85
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