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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Xehetasun bibliografikoak
Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2016
Gaiak:
Article
Sarrera elektronikoa: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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