Article

DDX3X syndrome: a multicenter genotype-phenotype study

2025-11-11

Abstract excerpt

<title>Abstract</title> <p> <italic>DDX3X</italic> dysfunction causes an X-linked multisystem disorder with high penetrance and variable expressivity. The phenotypic spectrum spans from learning disability without somatic involvement to profound intellectual disability with severe impairments in the central nervous system and other organs. A few multicenter studies and single case reports have previously highli...

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Literature Corpus work: 8af12ad3-a5a7-53c2-a3ac-5bb3da18a522
DOI: 10.21203/rs.3.rs-7842722/v1

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