Open access
Sep 2026
ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance
The findings provide robust evidence for familial transmission with reduced penetrance, emphasizing the necessity of family-based genetic counseling and parental testing, even when evaluating apparently asymptomatic individuals.
Ahmet Kablan, Abdullah Sezer, Atakan Deniz et al.
· Diagnostics · 0 citations