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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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Research
Online adgang: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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