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

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of hamartomas in multiple organs, including the brain, heart, skin, kidney, lung and retina. A diagnosis of TSC is established with a recently revised clinical/radiological set of...

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Detalles Bibliográficos
Autores principales: Wang, Feng, Xiong, Shiyi, Wu, Lin, Chopra, Maya, Hu, Xihong, Wu, Bingbing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975528/
https://www.ncbi.nlm.nih.gov/pubmed/29843636
http://dx.doi.org/10.1186/s12881-018-0611-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975528/
https://www.ncbi.nlm.nih.gov/pubmed/29843636
http://dx.doi.org/10.1186/s12881-018-0611-z

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