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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 SCler...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3dc0f80054b74f879b4183fb55c67671

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

About this item

Full title

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

Author / Creator

the TOSCA investigators , TOSCA investigators , Faculty of Medicine , Medicinska fakulteten , Evidence based clinical methods , Institutionen för kliniska vetenskaper, Lund , Evidensbaserade kliniska metoder , Lunds universitet , Department of Clinical Sciences, Lund , Sektion IV , Child and Adolescent Psychiatry , Lund University , Section IV , Barn- och ungdomspsykiatri , Child and Adolescent Psychiatric Conditions and Associated Risk Factors: CARE , Barn- och ungdomspsykiatriska tillstånd och associerade riskfaktorer , 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 , Shinohara, Nobuo , Horie, Shigeo , Kubota, Masaya , Tohyama, Jun , Imai, Katsumi , Kaneda, Mari , Kaneko, Hideo , Uchida, Yasushi , Kirino, Tomoko , Endo, Shoichi , Inoue, Yoshikazu , Uruno, Katsuhisa , Serdaroglu, Ayse , Yapici, Zuhal , Anlar, Banu , Altunbasak, Sakir , Lvova, Olga , Belyaev, Oleg Valeryevich , Agranovich, Oleg , Levitina, Elena Vladislavovna , Maksimova, Yulia Vladimirovna , Karas, Antonina , Jiang, Yuwu , Zou, Liping , Xu, Kaifeng , Zhang, Yushi , Luan, Guoming , Zhang, Yuqin , Wang, Yi , Jin, Meiling , Ye, Dingwei , Liao, Weiping , Zhou, Liemin , Liu, Jie , Liao, Jianxiang , YAN, Bo , Deng, Yanchun , Jiang, Li , Liu, Zhisheng , Huang, Shaoping , Li, Hua , Kim, Kijoong , Chen, Pei-Lung , Lee, Hsiu-Fen , Tsai, Jeng-Dau , Chi, Ching-Shiang , Huang, Chao-Ching , Riney, Kate , Yates, Deborah , Kwan, Patrick , Likasitwattanakul, Surachai , Nabangchang, Charcrin , Chomtho, Lunliya Thampratankul Krisnachai , Katanyuwong, Kamornwan , Sriudomkajorn, Somjit , Wilmshurst, Jo , Segel, Reeval , Gilboa, Tal , Tzadok, Michal , Valevski, Aviva Fattal , Papathanasopoulos, Panagiotis , Papavasiliou, Antigone Syrigou , Giannakodimos, Stylianos , Gatzonis, Stylianos , Pavlou, Evangelos , Tzoufi, Meropi , Vergeer, A. M. H. , Dhooghe, Marc , Verhelst, Hélène , Roelens, Filip and Nassogne, Marie Cecile

Publisher

England: BioMed Central

Journal title

Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.301-301, Article 301

Language

English

Formats

Publication information

Publisher

England: BioMed Central

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

the TOSCA investigators
TOSCA investigators
Faculty of Medicine
Medicinska fakulteten
Evidence based clinical methods
Institutionen för kliniska vetenskaper, Lund
Evidensbaserade kliniska metoder
Lunds universitet
Department of Clinical Sciences, Lund
Sektion IV
Child and Adolescent Psychiatry
Lund University
Section IV
Barn- och ungdomspsykiatri
Child and Adolescent Psychiatric Conditions and Associated Risk Factors: CARE
Barn- och ungdomspsykiatriska tillstånd och associerade riskfaktorer
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
Shinohara, Nobuo
Horie, Shigeo
Kubota, Masaya
Tohyama, Jun
Imai, Katsumi
Kaneda, Mari
Kaneko, Hideo
Uchida, Yasushi
Kirino, Tomoko
Endo, Shoichi
Inoue, Yoshikazu
Uruno, Katsuhisa
Serdaroglu, Ayse
Yapici, Zuhal
Anlar, Banu
Altunbasak, Sakir
Lvova, Olga
Belyaev, Oleg Valeryevich
Agranovich, Oleg
Levitina, Elena Vladislavovna
Maksimova, Yulia Vladimirovna
Karas, Antonina
Jiang, Yuwu
Zou, Liping
Xu, Kaifeng
Zhang, Yushi
Luan, Guoming
Zhang, Yuqin
Wang, Yi
Jin, Meiling
Ye, Dingwei
Liao, Weiping
Zhou, Liemin
Liu, Jie
Liao, Jianxiang
YAN, Bo
Deng, Yanchun
Jiang, Li
Liu, Zhisheng
Huang, Shaoping
Li, Hua
Kim, Kijoong
Chen, Pei-Lung
Lee, Hsiu-Fen
Tsai, Jeng-Dau
Chi, Ching-Shiang
Huang, Chao-Ching
Riney, Kate
Yates, Deborah
Kwan, Patrick
Likasitwattanakul, Surachai
Nabangchang, Charcrin
Chomtho, Lunliya Thampratankul Krisnachai
Katanyuwong, Kamornwan
Sriudomkajorn, Somjit
Wilmshurst, Jo
Segel, Reeval
Gilboa, Tal
Tzadok, Michal
Valevski, Aviva Fattal
Papathanasopoulos, Panagiotis
Papavasiliou, Antigone Syrigou
Giannakodimos, Stylianos
Gatzonis, Stylianos
Pavlou, Evangelos
Tzoufi, Meropi
Vergeer, A. M. H.
Dhooghe, Marc
Verhelst, Hélène
Roelens, Filip
Nassogne, Marie Cecile

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

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