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

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 clinical diagnostic criteria and assessed in clinical routine workup. Howe...

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Publicado en:Orphanet J Rare Dis
Main Authors: 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. Chris
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2021
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Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8259106/
https://ncbi.nlm.nih.gov/pubmed/34229737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01917-y
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