Publication:

Tuberous sclerosis complex type 2 in a subgroup of 7 pediatric patients

Tuberous sclerosis complex (TSC) is a multisystemic genetic disorder with autosomal dominant inheritance, characterized by hamartomas that affect multiple organs, including the central nervous system, skin, heart, kidneys, and lungs. It occurs due to variants in the tumor suppressor genes TSC1 or TSC2. In this case series, we present a subgroup of 7 pediatric patients with variants in the TSC2 gene and discuss their genotypes, phenotypes as well as genotype-phenotype correlation.