Article
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
2026-07-02
Abstract excerpt
<title>Abstract</title> <p> <bold>Background</bold> Pathogenic variants in <italic>AGO2</italic> ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic variability and disease severity remain incompletely understood. <bold>Methods</bold...
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Identifiers and source
- Literature Corpus work
- 14bb1466-a4e1-5bf6-a14e-9740858569aa
- DOI
- 10.21203/rs.3.rs-8378840/v1
