Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SCler...
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
About this item
Full title
Author / Creator
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 , TOSCA investigators and the TOSCA investigators
Publisher
England: BioMed Central
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central
Subjects
More information
Scope and Contents
Contents
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. However, case studies point towards the existence of rare disease...
Alternative Titles
Full title
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
Authors, Artists and Contributors
Author / Creator
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
TOSCA investigators
the TOSCA investigators
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_3dc0f80054b74f879b4183fb55c67671
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3dc0f80054b74f879b4183fb55c67671
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-021-01917-y
