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Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism

Courtney Matheny-Rabun; Lynda Holloway; Ken Corning dkk.

npj Genomic Medicine, Vol. 11 No. 1 · 2026 · Inggris · DOAJ Scopus

Abstract X-linked intellectual disability (XLID) comprises a group of heterogeneous disorders associated with impaired cognitive function and developmental delays. It has been estimated that 10% of the genes on the X-chromosome are associated with at least one form of intellectual disability. To…