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Browsing by Author "bef8f73e-159e-4e9c-8061-4dc8a020cad3"

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Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Author: Sauter, Matthias ; Belousova, Elena ; Benedik, Mirjana P. ; Carter, Tom ; Cottin, Vincent ; Curatolo, Paolo ; Dahlin, Maria ; D’Amato, Lisa ; d’Augères, Guillaume B. ; de Vries, Petrus J. ; Ferreira, José C. ; Feucht, Martha ; Fladrowski, Carla ; Hertzberg, Christoph ; Jozwiak, Sergiusz ; Lawson, John A. ; Macaya, Alfons ; Marques, Ruben ; Nabbout, Rima ; O’Callaghan, Finbar ; Qin, Jiong ; Sander, Valentin ; Shah, Seema ; Takahashi, Yukitoshi ; Touraine, Renaud ; Youroukos, Sotiris ; Zonnenberg, Bernard ; Jansen, Anna ; Kingswood, J. C. Date: 06 Jul 2021 Background Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor ... Read more c b
TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

Author: Kingswood, John C ; d’Augères, Guillaume B ; Belousova, Elena ; Ferreira, José C ; Carter, Tom ; Castellana, Ramon ; Cottin, Vincent ; Curatolo, Paolo ; Dahlin, Maria ; de Vries, Petrus J ; Feucht, Martha ; Fladrowski, Carla ; Gislimberti, Gabriella ; Hertzberg, Christoph ; Jozwiak, Sergiusz ; Lawson, John A ; Macaya, Alfons ; Nabbout, Rima ; O’Callaghan, Finbar ; Benedik, Mirjana P ; Qin, Jiong ; Marques, Ruben ; Sander, Valentin ; Sauter, Matthias ; Takahashi, Yukitoshi ; Touraine, Renaud ; Youroukos, Sotiris ; Zonnenberg, Bernard ; Jansen, Anna C Date: 2017 Abstract Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase ... Read more

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Browsing by Author "bef8f73e-159e-4e9c-8061-4dc8a020cad3"

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