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. 2023 May 20;54(2):e4005089. doi: 10.25100/cm.v54i2.5089
1) Why was this study conducted?
Because Fragile X Syndrome is a prevalent disease, with the world's most significant genetic cluster in Colombia. Research studies have led to recent advances and changes in paradigms of Fragile X syndrome, which have not been critically presented yet to the scientific public targeted by this journal.
2) What were the most relevant results of the study?
We conducted an updated and focused literature review that includes current perspectives in molecular and clinical aspects of Fragile X syndrome. It presents valuable contents for scientists, general practitioners, pediatricians and medical students.
3) What do these results contribute?
To understand the basic and clinical aspects of Fragile X syndrome will contribute to the early suspicion, diagnosis, and treatment of the affected individuals. There is growing evidence that prompt interventions in children Fragile X syndrome will improve their outcomes, which positively impact their and their caregivers' life’s.