Annals of Molecular and Genetic Medicine

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    Detection of new mutations in 3 cases de novo tuberous sclerosis

    DOI Logo 10.17352/amgm.000004

    Published On: September 12, 2019 | Pages: 001 - 006

    Author(s): 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 ot ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate GrowKudos
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