Annals of Molecular and Genetic Medicine

    Abstract

    Open Access Research Article Article ID: AMGM-3-104

    Detection of new mutations in 3 cases de novo tuberous sclerosis

    Carlos Andrés Quintero Vásquez, Isabel Fernández González, María Luisa Quevedo Camera, Angélica María García Ordoñez 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/amgm.000004
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