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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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Literature Corpus work
14bb1466-a4e1-5bf6-a14e-9740858569aa
DOI
10.21203/rs.3.rs-8378840/v1
Open publication

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The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndromeDOI 10.21203/rs.3.rs-8378840/v1
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