Osteogenesis imperfecta: Genetic aspects and the Ecuadorian reality
DOI:
https://doi.org/10.35381/s.v.v6i3.2268Keywords:
Osteogenesis imperfecta, genetics, genotype. (Source, DeCS).Abstract
Objective: To understand osteogenesis imperfecta through a detailed review of academic studies, to establish guidelines in primary care and make its genetic aspects visible in the context of the Ecuadorian health system. Method: This review is based on the selection of studies and reviews of Osteogenesis Imperfecta and the 2014 clinical practice guideline of the MSP of Ecuador for the management of OI. Results and conclusions: The genotype-phenotype relationship indicates that the two collagen sequences play very different roles in collagen integrity. This new genotype-phenotype correlation will be useful in predicting OI disease prognosis and genetic counseling. In Ecuador, the situation of patients with rare diseases is perishable, there is no adequate epidemiological monitoring and exact data that allow us to evaluate the impact of the disease
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References
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