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Detection of new mutations in 3 cases de novo tuberous sclerosis

Journal: Scientific Journal of Genetics and Gene Therapy (Vol.5, No. 1)

Publication Date:

Authors : ;

Page : 001-006

Keywords : Tuberous; Hereditary sclerosis; Hamar-toma; Mutation; TSC1; TSC2;

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Introduction: The tuberous sclerosis complex is a multisystemic disease of autosomal dominant etiology, not pretty common in Latin America. It is caused by the mutation of the TSC1 and TSC2 genes which is characterized by uncontrolled production of Hamartomas in diverse organs and systems. However, some patients could present asymptomatic characteristics whereas other could experience fatal symptoms.

Last modified: 2019-11-08 19:45:00