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Exome sequencing in a Chinese cohort of children with cerebral palsy identifies likely pathogenic variants

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Exome-sequencing analysis in a Chinese cohort of 1,578 children with cerebral palsy established a genetic etiology in 387 of the patients (24.5%). Children with cerebral palsy for whom perinatal asphyxia had been recorded at birth were found to be more likely to carry pathogenic or potentially pathogenic variants.

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Fig. 1: Overview of pathogenic and likely pathogenic variants and of the association between clinical risk factors and genetic risk factors in CP.

References

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This is a summary of: Wang, Y. et al. Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy. Nat. Med. https://doi.org/10.1038/s41591-024-02912-z (2024).

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Exome sequencing in a Chinese cohort of children with cerebral palsy identifies likely pathogenic variants. Nat Med 30, 1251–1252 (2024). https://doi.org/10.1038/s41591-024-02967-y

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