TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients

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 disease Awareness (TOSCA) is an international disease registry desi...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5217262/
https://ncbi.nlm.nih.gov/pubmed/28057044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0553-5
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