Associated Papers
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.
Kennis MGP et al.
European Journal of Human Genetics : Ejhg, 2025
Pathogenic mutations disrupt stress granules assembly in patients with DDX3X neurodevelopmental disorder.
Bi Y et al.
Human Molecular Genetics, 2025
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability.
Rafat K et al.
Molecular Syndromology, 2023
A de novo DDX3X Variant Is Associated With Syndromic Intellectual Disability: Case Report and Literature Review.
Chen Y et al.
Frontiers in Pediatrics, 2020
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Nicola P et al.
American Journal of Medical Genetics. Part A, 2019
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