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M. Xue

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Open access Aug 2026

Sex-specific genotype-phenotype landscape and prevalence of CASK-related disorder

How variant type and X-linked inheritance jointly shape disease expression is revealed and provide a foundation for improving diagnosis, genetic counseling, natural history studies, therapeutic development, and health policy planning for CASK-related disorder, with broader implications for other X-linked neurodevelopme...

K. Jiang, Ş. Aras, M. Xue · 0 citations

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