TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare, multisystem, genetic disorder with an estimated prevalence between 1/6800 and 1/15000. Although recent years have seen huge progress in understanding the pathophysiology and in the management of TSC, several questions remain unanswered. A disea...

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Veröffentlicht in:Orphanet J Rare Dis
Hauptverfasser: Kingswood, John C, Bruzzi, Paolo, Curatolo, Paolo, de Vries, Petrus J, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C, Jozwiak, Sergiusz, Nabbout, Rima, Sauter, Matthias, Touraine, Renaud, O’Callaghan, Finbar, Zonnenberg, Bernard, Crippa, Stefania, Comis, Silvia, d’Augères, Guillaume Beaure, Belousova, Elena, Carter, Tom, Cottin, Vincent, Dahlin, Maria, Ferreira, José Carlos, Macaya, Alfons, Benedik, Mirjana Perkovic, Sander, Valentin, Youroukos, Sotirios, Castellana, Ramon, Ulker, Bulent, Feucht, Martha
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2014
Schlagworte:
Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4256743/
https://ncbi.nlm.nih.gov/pubmed/25424195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0182-9
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