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✅   Awareness and knowledge of pediatricians regarding genetic testing for Fragile X syndrome in Japan: A National Survey of Pediatricians Managing Developmental Delay/Intellectual disability

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CONCLUSION: This study highlights the necessity for expanding education and training on FXS among pediatricians in Japan. Addressing these knowledge gaps may enhance FXS diagnostic rates and improve the management of affected individuals and families. Future efforts should focus on strengthening the collaboration between clinical geneticists and general pediatricians and establishing reliable genetic counseling support systems.

NCBI     May 11, 2025