2026-05-24T21:28:14Z https://www.peertechzpublications.org/oai-pmh

oai:www.peertechzpublications.org:10.17352/sjggt.000017 2019-09-12 PTZ.SJGGT:VOL5

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 OrdonezLuis Gustavo Celis Regalado<p><strong>Introduction</strong>: 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. <strong><br></strong></p><p><strong>Objective</strong>: 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).</p> Scientific Journal of Genetics and Gene Therapy - Peertechz Publications 2019-09-12 Research Article https://doi.org/10.17352/sjggt.000017 en Copyright © Carlos Andres Quintero Vasquez et al.