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Neurocutaneous Disorders

 
 
   

Where are the genetic defects for tuberous sclerosis?

Genetic linkage studies of familial cases have demonstrated two separate genes linked to tuberous sclerosis: TSC 1, located at chromosome 9q34, encoding a protein called hamartin, and TSC 2, located at chromosome 16p13.3, encoding a protein called tuberin.

Narayanan V: Tuberous sclerosis complex: genetics to pathogenesis, Pediatr Neurol 29:404–409, 2003.
Curatolo P, Bombardieri R, Jozwiak S: Tuberous sclerosis, Lancet 372:657–668, 2008.


 
 
 
     
 

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