Ontology highlight
ABSTRACT:
SUBMITTER: Overwater IE
PROVIDER: S-EPMC5117934 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Overwater Iris E IE Swenker Rob R van der Ende Emma L EL Hanemaayer Kimberley Bm KB Hoogeveen-Westerveld Marianne M van Eeghen Agnies M AM Lequin Maarten H MH van den Ouweland Ans Mw AM Moll Henriëtte A HA Nellist Mark M de Wit Marie-Claire Y MY
European journal of human genetics : EJHG 20160713 12
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 between TSC brain pathology and different inactivating TSC1 and TSC2 variants, and examined the potential prognostic value of subdivision of TSC2 variants based on their predicted effects on TSC2 expres ...[more]