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

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...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research