Examinando por Autor "Fernández Cajamarca, Johanna Lisseth"
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- ÍtemSolo MetadatosCorrelación genotipo - fenotipo de labio y paladar fisurado sindrómico. Revisión bibliográfica(Universidad Católica de Cuenca., 2023) Fernández Cajamarca, Johanna Lisseth; Matute Merchán, Sara Eufemia; 1401059835Objective: To determine the genotype-phenotype correlation of syndromic cleft lip and palate. Methodology: This descriptive study included 26 articles in English and Spanish from scientific databases such as PubMed, SciELO, Google Scholar, Scopus, and Medline. The selection of the articles was based on inclusion criteria that focused on genetic/molecular aspects, etiology, classification, incidence, and clinical features within the last five years. Results: The genes found to be most related to syndromic cleft lip and palate are: ESCO2, FFR2, IRF6, COL2A1, COL11A1, COL11A2, TCOF1, and other genes associated with environmental factors, such as ANK3 and ARHGEF10. Conclusions: Among congenital malformations, cleft lip and palate (CLP) is the most common, resulting from the failure in the closure of the palate and lip tissues during embryonic development. The highest percentage of CLP is related to genetic and environmental factors; the etiology of CLP from a genetic origin is paramount for the future discovery of genes whose modifications are directly associated with this condition.