A novel de novo mutation in the TSC2 gene in a Chinese patient with tuberous sclerosis complex.

Abstract excerpt

Tuberous sclerosis complex (TSC), a multisystem genetic syndrome, often affects the central nervous system. The age of onset of TSC ranges from 0 to 15 years. The clinical features manifest as a combination of seizures, mental retardation, facial angiofibroma, renal angiomyolipoma, and cardiac rhabdomyoma. Most cases of TSC are caused by mutations of the TSC1 or TSC2 genes. We characterized a Chinese patient with...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Asian People
• Share to DNA Mutational Analysis
• Share to TSC1 gene