Ahmet Kablan

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...

Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients.