A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal-dominant hereditary disease characterized by hamartomas of multiple organ systems, including the brain, skin, heart, kidney and lung. Genetically, TSC is caused by pathogenic variants in the TSC1 or TSC2 gene. CASE PRESENTATION: We reporte...

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Detalles Bibliográficos
Autores principales: He, Shunzhi, Lv, Na, Bao, Hongchu, Wang, Xiong, Li, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488555/
https://www.ncbi.nlm.nih.gov/pubmed/32917147
http://dx.doi.org/10.1186/s12881-020-01120-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488555/
https://www.ncbi.nlm.nih.gov/pubmed/32917147
http://dx.doi.org/10.1186/s12881-020-01120-z

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