Open access
Aug 2026
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
AGO2 is established as a pivotal regulator of neurodevelopment whose structural integrity is essential for precise miRNA-mediated gene regulation and isomiR generation, and occurrence of gonadal mosaicism is reported and revealed.
Debora Tibbe, Christina Kiel, Olena Ielesicheva et al.
· Genome Medicine · 0 citations