Review Article of American Journal of Genetics
KABUKI SYNDROME: A LITERATURE REVIEW
Beatriz Reis de Melo Veras1*, Mariana Cardoso Schroeder1, Marina de Araújo Câmara Gusmão1, Mirela Carolaine Cunha da Cruz1, Héberte de Santana Arruda2
Introduction. Kabuki syndrome is a rare congenital anomaly characterized by defects craniofacial, intellectual and cardiac. It has a clinical diagnosis and its main phenotypic characteristic observed is the facial dysmorphia, very similar to the makeup used by the Japanese theater actors Kabuki. This review aims to describe the characteristics of Kabuki Syndrome and its main implications. Methodology. A literature review was conducted with research on the following databases: PubMED, BVS and SCIELO. Five scientific papers and two dissertations were selected. Results. It is believed that the disease is related to a mutation of the MLL2 gene, which is responsible for coding the group of Tritorax proteins, which have as their main regular function and genetic expression. Conclusion. This disease is still poorly understood in the health not having a clarity about their phenotypic / genotypic relationship needing further studies on the subject.
Keywords: Kabuki, Kabuki syndrome, Kabuki make-up syndrome, congenital abnormalities.
How to cite this article:
Beatriz Reis de Melo Veras, Mariana Cardoso Schroeder, Marina de Araújo Câmara Gusmão, Mirela Carolaine Cunha da Cruz, Héberte de Santana Arruda. KABUKI SYNDROME: A LITERATURE REVIEW. American Journal of Genetics, 2019, 2:9
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