Hemizygous loss-of-function variants of <i>EIF1AX</i> are associated with a syndromic neurodevelopmental disorder

European Journal of Human Genetics, Published online: 24 June 2026; doi:10.1038/s41431-026-02151-5

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