Open access
Sep 2026
ADNP-Related Neurodevelopmental Disorder: The First Turkish Case Series with Novel Variants and Reduced Intrafamilial Penetrance
Background/Objectives: Helsmoortel–Van der Aa syndrome (HVDAS), or ADNP syndrome, is a neurodevelopmental disorder characterized by cognitive deficits, dysmorphic features, and multisystem involvement. While typically arising de novo, familial cases with variable penetrance remain exceptionally rare. No cases have been...
Ahmet Kablan, Abdullah Sezer, Atakan Deniz et al.
· Diagnostics · 0 citations