Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder

European Journal of Human Genetics · Published 2026-06-24 · DOI 10.1038/s41431-026-02151-5

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Authors (14)

Kazuyuki Komatsu, Atsushi Sugie, Yohei Nitta, Jiro Osaka, Ummul Halilunnisa Mansoor Hussain, Mitsuru Kubota, Nobuyuki Shimozawa, Melissa T. Carter, Petra J. G. Zwijnenburg, Quinten Waisfisz, Felix Boschann, Denise Horn, Mitsuko Nakashima, Hirotomo Saitsu

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Publication details

Year

2026

Citation

Komatsu, K., Sugie, A., Nitta, Y., et al. (2026). Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder. European Journal of Human Genetics. https://doi.org/10.1038/s41431-026-02151-5

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