Introduction
- Genetic disorder inherited in an autosomal dominant fashion.
- Characterized by increased predisposition to hamartoma formation.
- Mutations in genes TSC1 and TSC2 causing neurological disorders like epilepsy and intellectual disability.
- Other involved organ systems: pulmonary, renal, dermatologic, cardiac.
- Usually diagnosed in childhood/infancy; can be diagnosed earlier or later.
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- Published:07 May 2025
- Modified: 07 May 2025