Detection of new mutations in 3 cases de novo tuberous sclerosis

Carlos Andres Quintero Vasquez, Isabel Fernandez Gonzalez, Maria Luisa Quevedo Camera, Angelica Maria Garcia Ordonez and Luis Gustavo Celis Regalado*

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.

Objective: The scope of this work aims the process of reviewing inside the framework of 3 cases of tuberous sclerosis, reported at the Unidad genetica policlinica metroplitana of Caracas, Venezuela (Metropolitan polyclinic genetics unit in Caracas Venezuela).

Keywords:

Published on: Sep 12, 2019 Pages: 1-6

Full Text PDF Full Text HTML DOI: 10.17352/sjggt.000017
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