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

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

Abstract 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...

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Bibliographic Details
Main Authors: Shunzhi He, Na Lv, Hongchu Bao, Xiong Wang, Jing Li
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Medical Genetics
Subjects:
Tuberous sclerosis complex
TSC1
TSC2
Novel variant
Next generation sequencing
Preimplantation genetic testing
Online Access:http://link.springer.com/article/10.1186/s12881-020-01120-z

Internet

http://link.springer.com/article/10.1186/s12881-020-01120-z

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