Tuberous sclerosis complex.

Abstract excerpt

Tuberous sclerosis complex is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia and tissue dysplasia. The genetic cause is mutations in the TSC1 gene, found on chromosome 9q34, and TSC2 gene, found on chromosome 16p13. The clinical phenotypes resulting from mutations in either of the 2 genes are variable in each individual. Herein, advances in the understanding of...

Topics

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

• Share to Chromosomes, Human, Pair 16
• Share to Chromosomes, Human, Pair 9
• Share to Mechanistic Target of Rapamycin Complex 1