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A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family

Crossref DOI link: https://doi.org/10.1186/s12881-018-0611-z

Published Online: 2018-05-30

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Wang, Feng

Xiong, Shiyi

Wu, Lin http://orcid.org/0000-0003-2656-1386
Chopra, Maya

Hu, Xihong

Wu, Bingbing
Funding

Funding for this research was provided by:

the national key research and development program (2016YFC1000500)

Shanghai municipal medical and health discipline construction projects (2017ZZ02015)
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Article History

Received: 17 December 2017

Accepted: 18 May 2018

First Online: 30 May 2018

Ethics approval and consent to participate

: The study was approved by the institutional medical ethics committee of Children’s Hospital of Fudan University (2016-121).

: We confirm that all of the family members involved in the case report gave their consent for their medical data to be published, particularly, the parents and grandparents of the patients have given their written consents for the genetic testing and publication of the medical data of themselves, their children as well as their deceased siblings. A copy of the written consent is available for review by the editor of this Journal.

: The authors declare that they have no competing interests.

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